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- Down syndrome
Condition summary
Found: Down syndrome is a chromosomal condition that...
- Trisomy
Illustration
Related term: ...of an extra chromosome in cells. Down syndrome is an example of a condition caused...
- chromosome 21
Chromosome summary
Found: Down syndrome is most often caused by trisomy...
- congenital sucrase-isomaltase deficiency
Condition summary
Found: ...People with this condition cannot break down the sugars sucrose and maltose. Sucrose...
- Alzheimer disease
Condition summary
Found: ...evidence indicates that people with Down syndrome have an increased risk of developing...
- SI: sucrase-isomaltase (alpha-glucosidase)
Gene summary
Found: ...tract, where it is involved in breaking down the sugars sucrose (a sugar found in fruits,...
- isovaleric acidemia
Condition summary
Found: ...plays an essential role in breaking down proteins from the diet. Specifically,...
- HEXB: hexosaminidase B (beta polypeptide)
Gene summary
Found: ...or missing enzymes are unable to break down GM2 ganglioside and other molecules, which...
- 2-hydroxyglutaric aciduria
Condition summary
Found: ...dehydrogenase, which helps to break down a compound called D-2-hydroxyglutarate....
- PSAP: prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy)
Gene summary
Found: ...glucocerebrosidase enzyme cannot break down glucocerebroside effectively. As a result,...
- Sandhoff disease
Condition summary
Found: ...are structures in cells that break down toxic substances and act as recycling centers....
- FMO3: flavin containing monooxygenase 3
Gene summary
Found: ...(FMOs). These enzymes break down compounds that contain nitrogen, sulfur,...
- MANBA: mannosidase, beta A, lysosomal
Gene summary
Found: ...lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides)...
- ETFDH: electron-transferring-flavoprotein dehydrogenase
Gene summary
Found: ...(metabolic pathways) that break down fats and proteins. This enzyme deficiency...
- MAN2B1: mannosidase, alpha, class 2B, member 1
Gene summary
Found: ...lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides)...
- ETFA: electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)
Gene summary
Found: ...(metabolic pathways) that break down fats and proteins. This enzyme deficiency...
- ETFB: electron-transfer-flavoprotein, beta polypeptide
Gene summary
Found: ...(metabolic pathways) that break down fats and proteins. This enzyme deficiency...
- GAA: glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)
Gene summary
Found: ...use digestive enzymes that break down complex molecules into simpler ones that...
- ABHD5: abhydrolase domain containing 5
Gene summary
Found: ...ATGL enzyme plays a role in breaking down fats called triglycerides, which are the...
- AGA: aspartylglucosaminidase
Gene summary
Found: ...lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides)...
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Published: January 23, 2009
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