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1,552
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genetic ACID
- Amino Acid Metabolism Disorders (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks ...
- 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). ...
- Lipid Metabolism Disorders (National Library of Medicine)Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
- Free sialic acid storage disorder (FSASD) is an inherited condition that primarily affects the brain and spinal cord (central nervous system). The signs and ...
- ... 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 ( ...
- Newborn Screening (National Library of Medicine)Your newborn infant has screening tests before leaving the hospital. There may be different tests depending on the state where you live. They include: Tests ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
- ... AADC deficiency AADCD DDC deficiency 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, ...
