Congenital Sucrase-Isomaltase Deficiency: Causes, Symptoms, and Treatment

Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic condition associated with the failure to thrive in infants and children due to the inability to digest and absorb certain sugars, such as sucrose and isomaltose. This deficiency is caused by mutations in the sucrase-isomaltase gene. CSID is often diagnosed in infancy when solid foods are introduced, and symptoms may include diarrhea, stomach pain, bloating, and gas.

Research on CSID has led to the identification of novel genes and molecules associated with the condition. More studies are being conducted to learn about the frequency of CSID and its inheritance patterns. Testing for CSID involves measuring the activity of the sucrase-isomaltase enzyme and genetic testing for mutations in the sucrase-isomaltase gene.

Patients with CSID require a specialized diet that avoids foods containing sucrose and other disaccharides. This includes avoiding certain fruits and other sources of sugar. However, with proper management and support, individuals with CSID can lead healthy lives.

For more information about CSID, advocacy resources, and additional support, refer to the websites and references provided below:

OMIM – Online Mendelian Inheritance in Man: Contains information about the genetic causes and inheritance of CSID.
The CSID Center: A comprehensive resource for patients and families affected by CSID, providing information, clinical trials, and support services.
PubMed: A database of scientific articles and studies on CSID and related diseases.
ClinicalTrials.gov: A registry of ongoing clinical trials related to CSID and potential treatment options.
Genes & Diseases Catalog: A catalog of genes and diseases, including CSID, with information on associated symptoms and inheritance patterns.

By increasing awareness, conducting research, and providing support, the scientific and medical community is working towards improving the understanding and management of CSID.

Frequency

Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic condition. The frequency of CSID varies among different populations and is estimated to affect about 1 in every 500 to 1,000 individuals in the general population.

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CSID is caused by mutations in the sucrase-isomaltase (SI) gene, which is responsible for producing the sucrase-isomaltase enzyme. This enzyme is necessary for the digestion of complex sugars, such as sucrose and isomaltose, into simpler molecules that can be absorbed by the body.

The frequency of CSID can also vary depending on the region and the specific genetic mutations present in a population. Studies have identified different mutations in the SI gene associated with CSID, and additional research is needed to understand the full spectrum of genetic variations that can cause this condition.

Clinical symptoms of CSID typically appear in infancy when solid foods are introduced. Infants with CSID may have difficulty digesting and absorbing sugars, leading to symptoms such as diarrhea, abdominal pain, failure to thrive, and malnutrition.

Diagnosis of CSID can be challenging since the symptoms can overlap with other diseases. Genetic testing is the most accurate method for diagnosing CSID and can identify specific mutations in the SI gene. Other testing methods, such as breath tests and disaccharide tolerance tests, can also provide additional information.

Due to the rarity of CSID, resources and support for patients and their families may be limited. However, there are advocacy groups and research centers that provide information, clinical trials, and support for individuals with CSID and their caregivers.

For more information about CSID, genetic testing, and research studies, you can visit the following resources:

ClinicalTrials.gov – a database of clinical trials related to CSID
PubMed – a database of scientific articles related to CSID
OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders

In conclusion, CSID is a rare genetic condition that affects the digestion and absorption of sugars. The frequency of CSID varies among populations, and research studies are ongoing to learn more about the genetic causes and associated clinical symptoms of this condition.

Causes

The main cause of congenital sucrase-isomaltase deficiency is a genetic mutation in the SLC5A1 gene. This gene provides instructions for producing the sucrase-isomaltase enzyme, which is responsible for breaking down the disaccharides sucrose and isomaltose into simpler sugars that can be absorbed by the body. Mutations in the SLC5A1 gene result in a deficiency of functional sucrase-isomaltase enzyme, leading to the inability to properly digest these sugars.

There are several associated diseases with congenital sucrase-isomaltase deficiency, including Crohn’s disease, celiac disease, and irritable bowel syndrome. These conditions can exacerbate the symptoms of sucrase-isomaltase deficiency and make it more difficult for affected individuals to tolerate disaccharides from their diet.

The frequency of this condition is relatively rare, with an estimated prevalence of 1 in 500 individuals. It is more common in certain populations, such as those of European descent.

Genetic testing can be done to confirm a diagnosis of congenital sucrase-isomaltase deficiency. This testing can identify specific mutations in the SLC5A1 gene that are associated with the condition. In addition, clinical trials and research studies are ongoing to learn more about the genetic basis, clinical manifestations, and treatment options for this rare genetic disorder.

Support and advocacy resources are available for individuals and families affected by congenital sucrase-isomaltase deficiency. Organizations such as the International Sucrase-Isomaltase Deficiency Association (ISIDA) and the Genetic and Rare Diseases Information Center (GARD) provide information, support, and resources for patients and their families.

Additional information about congenital sucrase-isomaltase deficiency can be found in scientific articles and reference databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide a comprehensive catalog of research articles and information about the condition, its genetic inheritance, clinical manifestations, and treatment options.

Learn more about the gene associated with Congenital sucrase-isomaltase deficiency

Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic condition characterized by the inability to break down and absorb sugars, such as sucrose, in the small intestine. This deficiency is caused by mutations in the sucrase-isomaltase gene.

The sucrase-isomaltase gene provides instructions for making the sucrase-isomaltase enzyme, which is responsible for digesting sucrose and other disaccharides. Mutations in this gene result in reduced or absent enzyme activity, leading to malabsorption of sugars. Because the body cannot properly break down these sugars, they can accumulate in the intestines and cause symptoms such as diarrhea, abdominal pain, and failure to thrive.

Inheritance

Congenital sucrase-isomaltase deficiency (CSID) is a rare genetic condition that affects the digestion of sugars sucrose and isomaltose. The condition is inherited in an autosomal recessive manner, which means that both copies of the sucrase-isomaltase gene must be mutated for an individual to develop the deficiency.

When a patient with CSID inherits one mutated gene and one normal gene, they are considered carriers of the condition and do not typically show any symptoms. However, if both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two mutated genes and develop CSID.

CSID is caused by mutations in the sucrase-isomaltase gene (SI), which provides instructions for making the sucrase-isomaltase enzyme. This enzyme is responsible for breaking down sucrose and isomaltose into simpler sugars that can be absorbed by the small intestine.

Diagnostic testing for CSID can be done through genetic testing, which involves analyzing the SI gene for mutations. This testing can help confirm a diagnosis and identify individuals who may be carriers of the condition.

There are currently no cure for CSID. The treatment involves managing the symptoms and avoiding foods and drinks that contain sucrose and isomaltose, such as candy, fruits, and other sugar-rich foods. Additionally, enzyme replacement therapy can be used to supplement the missing sucrase-isomaltase enzyme.

Clinical trials and research studies are ongoing to better understand the condition and develop new treatment options. For additional information about CSID, resources such as the Genetic and Rare Diseases Information Center (GARD), Online Mendelian Inheritance in Man (OMIM), and scientific articles can provide more insight into the condition.

Genetic advocacy organizations, such as the CSID Research and Education Foundation, also offer support and resources for patients and their families affected by CSID. These organizations can provide information on genetic counseling, clinical trials, and additional support services.

Overall, CSID is a rare genetic condition with a wide range of symptoms and severity. Further research and studies are necessary to learn more about the causes, molecular mechanisms, and novel treatment options for this condition.

Other Names for This Condition

Other names for congenital sucrase-isomaltase deficiency include:

Rare Genetic Sucrase-Isomaltase Deficiency
Sugar Intolerance, Congenital
Genetic Sucrose Intolerance
Genetic Sucrase-Isomaltase Deficiency
Hereditary Sucrase-Isomaltase Deficiency
Isomaltase Deficiency

Congenital sucrase-isomaltase deficiency is a rare genetic condition that causes deficiency of the sucrase-isomaltase enzyme. This enzyme is responsible for breaking down the sugars sucrose and isomaltose into smaller molecules that can be absorbed by the body. Without sufficient sucrase-isomaltase enzyme activity, individuals with this condition are unable to properly digest and absorb these sugars.

Individuals with congenital sucrase-isomaltase deficiency may experience symptoms such as diarrhea, abdominal pain, bloating, and failure to thrive. The condition is typically diagnosed through genetic testing to identify mutations in the sucrase-isomaltase gene. The inheritance pattern of this condition is autosomal recessive, meaning that both copies of the gene must be mutated for the condition to be present.

There is currently no cure for congenital sucrase-isomaltase deficiency, but management typically involves dietary modifications to reduce consumption of sucrose and other sugars that are difficult to digest. Sucrose and foods high in disaccharides, such as certain fruits and vegetables, are often restricted from the diet. Additional support and resources for individuals with congenital sucrase-isomaltase deficiency can be found through advocacy organizations, such as the Zimmer Center for Rare Diseases, as well as scientific articles and studies available through PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog.

For more information about this condition, including research studies and clinical trials, please visit ClinicalTrials.gov.

Additional Information Resources

Here are some additional resources for learning more about congenital sucrase-isomaltase deficiency:

Research and Studies: A number of scientific studies have been conducted on congenital sucrase-isomaltase deficiency. You can find more information and references to these studies on PubMed, a free resource for accessing scientific articles.
Genetic Testing: Genetic testing can be done to determine if a patient has congenital sucrase-isomaltase deficiency. This can be helpful in confirming the diagnosis and understanding the inheritance pattern of the condition. Genetic testing can be done at specialized genetic testing centers.
Clinical Trials: There may be clinical trials available for patients with congenital sucrase-isomaltase deficiency. These trials can offer new treatment options and help doctors learn more about the condition. You can search for clinical trials on ClinicalTrials.gov.
Support and Advocacy: There are various organizations and resources available to provide support and advocacy for patients with congenital sucrase-isomaltase deficiency and their families. These organizations can offer information, advice, and resources to help patients thrive with the condition.
OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. You can find more information about congenital sucrase-isomaltase deficiency, including the associated genes and inheritance patterns, on the OMIM website.

These resources can provide you with more information about congenital sucrase-isomaltase deficiency, its causes, inheritance patterns, and treatment options. It is important to consult with healthcare professionals for personalized advice and guidance.

Genetic Testing Information

If you or someone you know is affected by congenital sucrase-isomaltase deficiency, genetic testing can provide important information about the condition. This testing can help to confirm the diagnosis and identify the specific genetic changes that are causing the deficiency.

Genetic testing for congenital sucrase-isomaltase deficiency is typically done through a blood sample. The sample is sent to a specialized laboratory where experts analyze the DNA to look for changes in the gene that codes for the sucrase-isomaltase enzyme.

There are several different genes that have been associated with congenital sucrase-isomaltase deficiency. The most common cause is mutations in the SI gene, which is responsible for producing the sucrase-isomaltase enzyme.

Genetic testing can also determine if the deficiency is inherited in an autosomal recessive manner. This means that both copies of the SI gene must have mutations in order for the deficiency to occur.

Knowing the genetic cause of congenital sucrase-isomaltase deficiency can be valuable for several reasons. It can help individuals and families understand why the condition has occurred and what the risks are for passing it on to future children.

Additionally, genetic testing can provide information about treatment options. Some individuals with congenital sucrase-isomaltase deficiency may benefit from a sucrase-isomaltase replacement therapy, while others may need to follow a specialized diet that limits the intake of certain sugars.

If you are interested in learning more about genetic testing for congenital sucrase-isomaltase deficiency, there are several resources available. The Genetic and Rare Diseases Information Center (GARD) provides helpful information and links to other resources for patients and their families.

The Online Mendelian Inheritance in Man (OMIM) database also contains detailed information about the genes and genetic changes associated with this condition, as well as a catalog of scientific articles and other references for further reading.

You can also visit the ClinicalTrials.gov website to learn about ongoing research studies and clinical trials related to congenital sucrase-isomaltase deficiency. These studies may be investigating novel treatment approaches or exploring the underlying causes of the condition.

In addition to these resources, there are advocacy organizations that provide support and information for individuals and families affected by congenital sucrase-isomaltase deficiency. These organizations can connect you with others who are facing similar challenges and provide helpful resources and support.

By undergoing genetic testing, you can gain valuable information about the specific genetic changes causing congenital sucrase-isomaltase deficiency and how it may be inherited. This information can help you make informed decisions about treatment options and better understand the condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for individuals seeking information about rare genetic conditions, including congenital sucrase-isomaltase deficiency. GARD provides a wealth of articles and resources that can help individuals better understand this condition and find support.

One of the key features of GARD is its comprehensive catalog of rare diseases. Within this catalog, you can find detailed information on each condition, including the frequency of occurrence, inheritance patterns, associated genes, and more. For congenital sucrase-isomaltase deficiency, GARD provides information on its genetic causes and how it is inherited.

GARD also offers information on clinical studies and research related to congenital sucrase-isomaltase deficiency. Through links to resources like PubMed and ClinicalTrials.gov, individuals can learn about the latest scientific studies and clinical trials that are exploring new treatments and management strategies for this condition.

In addition to scientific information, GARD provides resources for patients and advocacy organizations. For individuals living with congenital sucrase-isomaltase deficiency, GARD offers support and guidance on how to thrive with this condition. This includes information on dietary modifications, testing for sugar intolerance, and additional support for managing the symptoms of this rare genetic condition.

There are also resources available for healthcare professionals and researchers who are interested in learning more about congenital sucrase-isomaltase deficiency. GARD provides access to scientific literature, including articles and studies related to this condition. This can help clinicians stay up-to-date on the latest research and treatment options for their patients.

Overall, the Genetic and Rare Diseases Information Center is an invaluable resource for individuals and families affected by congenital sucrase-isomaltase deficiency. Through its comprehensive catalog, scientific resources, and patient support materials, GARD provides a wealth of information and support for those living with rare genetic conditions.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with congenital sucrase-isomaltase deficiency (CSID), it is important to know that there are resources available to support and advocate for patients with this condition. Below is a catalog of patient support and advocacy resources that provide information, research, and support for individuals and families affected by CSID:

Genetic and Rare Diseases Information Center (GARD): GARD offers a comprehensive online resource with information about the causes, inheritance, frequency, and testing for CSID. They also provide links to clinical trials and additional resources for patients and families.
Online Mendelian Inheritance in Man (OMIM): OMIM is a database that contains information about genes and genetic conditions. They provide detailed articles on CSID, including descriptions of the associated genes and inheritance patterns.
ClinicalTrials.gov: This website provides information on ongoing clinical trials studying CSID. Patients and families can learn about novel treatments, research studies, and potential opportunities to participate in clinical trials.
CSID Support Center: The CSID Support Center is a dedicated organization that provides resources, education, and support for individuals and families affected by CSID. They offer information about managing the condition, including diet and nutrition recommendations, as well as emotional support for patients and caregivers.
Scientific Studies: Numerous scientific studies and research articles have been published on CSID, exploring various aspects of the condition and potential treatments. PubMed is a reliable source to access these studies and learn more about the current research in the field.
Zimmer Children’s Museum: The Zimmer Children’s Museum has developed a resource called “Sugar Molecules – Sweet and Sour”. This interactive exhibit provides educational information about sugars, including disaccharides like sucrose and isomaltose, which are affected by CSID. It helps patients and families understand the role of these sugars in their diet and offers suggestions on alternative sources of nutrition.

These patient support and advocacy resources can help individuals with CSID and their families to learn more about the condition, find information on managing the condition, connect with others who are facing similar challenges, and advocate for better understanding and support for this rare genetic deficiency.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide valuable information about the rare genetic condition called Congenital Sucrase-Isomaltase Deficiency (CSID). CSID is a rare disease that affects the ability to digest sugars and is caused by mutations in the sucrase-isomaltase gene.

CSID is an inherited condition, and it is estimated to occur in about 1 in every 2,000 to 3,000 births. People with CSID have a deficiency in the enzyme sucrase-isomaltase, which leads to an inability to digest certain sugars found in foods like sucrose and isomaltose. This can lead to symptoms such as diarrhea, abdominal pain, and failure to thrive.

Research studies on CSID aim to understand the genetic causes of the condition, develop novel diagnostic methods, improve patient care, and explore potential treatments. ClinicalTrials.gov is a valuable resource for finding ongoing and completed research studies on CSID. These studies investigate various aspects of the condition, including its genetic inheritance, associated symptoms and complications, and testing and treatment options.

ClinicalTrials.gov provides a comprehensive catalog of research studies on CSID, including both interventional (testing new treatments or therapies) and observational (collecting data and information) studies. Researchers may use genetic testing to identify the specific gene mutations associated with CSID, and clinical trials may investigate the efficacy of new therapies or interventions.

In addition to research studies, ClinicalTrials.gov also provides access to scientific publications and articles related to CSID. PubMed references can be found for further reading on the topic, including studies that explore the molecular mechanisms of the condition and its impact on patient health.

Furthermore, ClinicalTrials.gov offers resources and support for patients and their families, including information on advocacy groups, support centers, and genetic counseling services. These resources can help individuals with CSID and their families learn more about the condition, find support, and navigate the complexities of living with a rare genetic disease.

Overall, research studies from ClinicalTrials.gov play an essential role in advancing our knowledge of congenital sucrase-isomaltase deficiency. By investigating the genetic and molecular basis of the condition, exploring new diagnostic methods, and testing potential treatments, these studies contribute to improving the lives of individuals with CSID and finding new avenues for therapeutic intervention.

Catalog of Genes and Diseases from OMIM

Congenital sucrase-isomaltase deficiency is a rare genetic condition that causes a failure to thrive in infants. It is associated with a deficiency in the sucrase-isomaltase enzyme, which is responsible for breaking down the disaccharides sucrose and isomaltose into smaller sugar molecules that can be absorbed by the small intestine.

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases, including information about congenital sucrase-isomaltase deficiency. It contains detailed descriptions of the genes associated with this condition, as well as references to research studies, scientific articles, and additional resources for further learning.

Genes Associated with Congenital Sucrase-Isomaltase Deficiency

The OMIM catalog lists the following genes associated with congenital sucrase-isomaltase deficiency:

SI (sucrase-isomaltase)

Frequency and Clinical Features

Congenital sucrase-isomaltase deficiency is a rare condition. It is characterized by the inability to digest sucrose, leading to symptoms such as diarrhea, abdominal pain, and failure to thrive. The severity of the symptoms can vary among individuals.

Testing and Diagnosis

Diagnosis of congenital sucrase-isomaltase deficiency involves genetic testing to identify mutations in the SI gene. Genetic testing can be done in specialized genetic laboratories.

Support and Advocacy

For individuals and families affected by congenital sucrase-isomaltase deficiency, there are advocacy organizations and support groups that provide resources and support. These organizations can help connect patients and families with information about the condition, treatment options, and ongoing research.

More Information

Additional information about congenital sucrase-isomaltase deficiency can be found on the OMIM website. The OMIM entries for this condition provide detailed descriptions, references to scientific articles, and links to related research studies.

References

1. Zimmer, K.P. Congenital sucrase-isomaltase deficiency. In GeneReviews® [Internet]. University of Washington, Seattle; 2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1129/

2. ClinicalTrials.gov. Search results for “congenital sucrase isomaltase deficiency”. Available from: https://clinicaltrials.gov/ct2/results?cond=congenital+sucrase-isomaltase+deficiency&term=&cntry=&state=&city=&dist=

3. OMIM. Entry #222900: Congenital Sucrase-Isomaltase Deficiency. Available from: https://www.ncbi.nlm.nih.gov/omim/222900

Scientific Articles on PubMed

Congenital sucrase-isomaltase deficiency is a rare genetic condition that causes the failure to thrive in infants and small children. It is characterized by the inability to break down and absorb certain sugars, such as sucrose and other disaccharides.

Information about this condition and its causes can be found through scientific articles available on PubMed. PubMed is a database of research articles on various medical topics, including rare genetic diseases like congenital sucrase-isomaltase deficiency.

Studies have identified specific genetic mutations in the sucrase-isomaltase genes that are associated with this condition. These genes encode for enzymes that play a crucial role in the digestion and absorption of sugars. Mutations in these genes result in a deficiency of the sucrase-isomaltase enzymes, leading to the symptoms of the condition.

PubMed provides a vast catalog of scientific articles on this topic, including clinical studies, genetic testing resources, and more. Researchers and healthcare professionals can access these articles to learn about the latest research and advancements in understanding and managing this condition.

Patient support organizations and advocacy groups for congenital sucrase-isomaltase deficiency may also provide additional information and resources for patients and their families.

In summary, scientific articles on PubMed offer valuable information about the causes, genetic inheritance, clinical manifestations, diagnostic testing, and management of congenital sucrase-isomaltase deficiency. Researchers and healthcare professionals can use these resources to stay up-to-date on the latest research and provide the best care for patients with this rare condition.

References

Zimmer KP. Congenital sucrase-isomaltase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews^®. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK6886/
Kaneko H, Kobayashi K, Mishima H, et al. Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption. Hum Genet. 1995;96(1):29-33. doi:10.1007/BF00190340
ClinicalTrials.gov. Search for Congenital Sucrase-Isomaltase Deficiency. Available from: https://clinicaltrials.gov/ct2/results?term=Congenital+Sucrase-Isomaltase+Deficiency
Online Mendelian Inheritance in Man (OMIM). Sucrase-isomaltase deficiency, congenital. Available from: https://omim.org/entry/222900
Genetics Home Reference. Sucrase-isomaltase deficiency. Available from: https://ghr.nlm.nih.gov/condition/sucrase-isomaltase-deficiency
NIH Genetic and Rare Diseases Information Center. Congenital sucrase-isomaltase deficiency. Available from: https://rarediseases.info.nih.gov/diseases/6534/congenital-sucrase-isomaltase-deficiency
National Institute of Diabetes and Digestive and Kidney Diseases. Sucrase-isomaltase deficiency. Available from: https://www.niddk.nih.gov/health-information/digestive-diseases/sucrase-isomaltase-deficiency
PubMed. Sucrase-isomaltase deficiency. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=sucrase-isomaltase+deficiency
Lynch J, Poppitt S. Sucrose and dental caries: a review of the evidence. Obes Rev. 2021;22 Suppl 3:e13191. doi:10.1111/obr.13191
Guardia-Escote L, Garcia-Gavilan C, Calles AB, et al. Alarm bells for added sugars and sugary drinks: endocrine consequences of dietary fructose exposure. Endocrinol Diabetes Nutr. 2021;68(Suppl 1):63-74. doi:10.1016/S2530-0164(21)00047-4

Frequency

Causes

Learn more about the gene associated with Congenital sucrase-isomaltase deficiency

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Genes Associated with Congenital Sucrase-Isomaltase Deficiency

Frequency and Clinical Features

Testing and Diagnosis

Support and Advocacy

More Information

References

Scientific Articles on PubMed

References

McLeod neuroacanthocytosis syndrome

Pompe disease

KRT1 gene

Frequency

Causes

Learn more about the gene associated with Congenital sucrase-isomaltase deficiency

Inheritance

Other Names for This Condition

Additional Information Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Research Studies from ClinicalTrialsgov

Catalog of Genes and Diseases from OMIM

Genes Associated with Congenital Sucrase-Isomaltase Deficiency

Frequency and Clinical Features

Testing and Diagnosis

Support and Advocacy

More Information

References

Scientific Articles on PubMed

References

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