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genetic acid
- Lysosomal acid lipase deficiency is an inherited condition characterized by problems with the breakdown and use of fats and cholesterol in the body (lipid metabolism). ...
- ... Sialuria, Finnish type Genetic Testing Registry: Salla disease Genetic Testing Registry: Sialic acid storage disease, severe infantile type Free sialic acid ...
- ... leukodystrophy and spastic paraparesis FAHN Spastic paraplegia 35 Genetic Testing Registry: Hereditary spastic paraplegia 35 Fatty acid hydroxylase-associated neurodegeneration National Organization for Rare Disorders ( ...
- ... aromatic-L-amino-acid decarboxylase Dopa decarboxylase deficiency Genetic Testing Registry: Deficiency of aromatic-L-amino-acid decarboxylase Aromatic L-amino acid decarboxylase deficiency National ...
- The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in cell compartments called lysosomes, which ...
- The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, ...
- Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid ...
- ... delta(4)-3-oxosteroid 5-beta-reductase deficiency Genetic Testing Registry: Congenital bile acid synthesis defect 2 Congenital bile acid synthesis defect ...
- ... Gaucher disease change single protein building blocks (amino acids) in beta-glucocerebrosidase, altering the structure of the enzyme and preventing it from working normally. Other mutations delete or insert genetic material in the GBA gene or lead to ...
- ... type of mutation in the RERE gene. Additional genetic factors that have not been identified, ... ARG arginine-glutamic acid dipeptide (RE) repeats arginine-glutamic acid repeats-encoding ...
