2-keto-4-methylvalerate and Friedreich Ataxia

2-keto-4-methylvalerate has been researched along with Friedreich Ataxia in 1 studies

alpha-ketoisocaproic acid: RN given refers to parent cpd
4-methyl-2-oxopentanoate : A 2-oxo monocarboxylic acid anion that is the conjugate base of 4-methyl-2-oxopentanoic acid.
4-methyl-2-oxopentanoic acid : A 2-oxo monocarboxylic acid that is pentanoic acid (valeric acid) substituted with a keto group at C-2 and a methyl group at C-4. A metabolite that has been found to accumulate in maple syrup urine disease.

Friedreich Ataxia: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)

Research

Studies (1)

Authors

Other Studies

1 other study available for 2-keto-4-methylvalerate and Friedreich Ataxia