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Results 1 - 10 of 253 for genetic acid
  1. Lysosomal acid lipase deficiency 
    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). ...
    https://medlineplus.gov/.../lysosomal-acid-lipase-deficiency - Genetics
  2. Sialic acid storage disease 
    ... Sialuria, Finnish type Genetic Testing Registry: Salla disease Genetic Testing Registry: Sialic acid storage disease, severe infantile type Free sialic acid ...
    https://medlineplus.gov/.../condition/sialic-acid-storage-disease - Genetics
  3. Fatty acid hydroxylase-associated neurodegeneration 
    ... 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 ( ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  4. Aromatic l-amino acid decarboxylase deficiency 
    ... 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 ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  5. Congenital bile acid synthesis defect type 1 
    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 ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  6. Congenital bile acid synthesis defect type 2 
    ... delta(4)-3-oxosteroid 5-beta-reductase deficiency Genetic Testing Registry: Congenital bile acid synthesis defect 2 Congenital bile acid synthesis defect ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  7. Maple syrup urine disease 
    ... the condition. BCKD deficiency Branched-chain alpha-keto acid dehydrogenase deficiency Branched-chain ketoaciduria Ketoacidemia MSUD Genetic Testing Registry: Classical maple syrup urine disease Genetic ...
    https://medlineplus.gov/genetics/condition/maple-syrup-urine-disease - Genetics
  8. Gout 
    ... inheritance pattern of gout is unclear because many genetic and environmental factors appear to be involved. However, having a close ... URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 HYPOURICEMIA, ...
    https://medlineplus.gov/genetics/condition/gout - Genetics
  9. Renal hypouricemia 
    ... renal hypouricemia type 2 (RHUC2). Nucleosides Nucleotides Nucleic Acids. 2011 ... biochemical, genetics and functional analysis. Eur J Hum Genet. 2013 ...
    https://medlineplus.gov/genetics/condition/renal-hypouricemia - Genetics
  10. GABA-transaminase deficiency 
    ... aminobutyrate transaminase deficiency Gamma-aminobutyric acid transaminase deficiency Genetic Testing Registry: Gamma-aminobutyric acid transaminase deficiency Gamma-aminobutyric acid transaminase deficiency National ...
    https://medlineplus.gov/.../condition/gaba-transaminase-deficiency - Genetics
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