Abstract
Glutaric acid was elevated in plasma (0.1-0.6 mg %;normal = undetected), urine (5 gm/gm creatinine;normal=undetected),and CSF (0.25 mg %;normal=undetected) of two siblings, a 1½ year old girl and a 7½ year old boy. Both have a neurodegenerative disorder characterized by initial normalcy followed by progressive deterioration to opisthotonus and posturing. Recurrent metabolic acidemia was present in the male. One sibling has neither glutaric acidemia nor neurologic dysfunction, and the parents deny consanguinity.
Glutaryl-CoA is an intermediate in the metabolism of L-lysine, L-tryptophan, and hydroxy-L-lysine, being further metabolized through glutaconyl-CoA to crotonyl-CoA. Oral administration of L-lysine augmented the glutaric aciduria; L-valine did not. Decreasing protein intake from 4.1 to 1.6 gm/kg/day decreased glutaric acid excretion from 5 to 2 gm/gm creat. The metabolism of glutaric acid-l,5-14C in peripheral leucocytes and cultured fibroblasts was normal.
If inherited, transmission may be as an autosomal recessive trait; carriers cannot be differentiated easily from controls by lysine loading. It is speculated that (1) the disorder is due to a block at the level of glutaryl-CoA dehydrogenase, and (2) that CNS dysfunction may relate to inhibition by glutaric acid of transport or metabolism of glutamic acid.
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Goodman, S., Moe, P., Markey, S. et al. GLUTARIC ACIDEMIA: A NEW DISORDER OF AMINO ACID METABOLISM. Pediatr Res 8, 389 (1974). https://doi.org/10.1203/00006450-197404000-00295
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DOI: https://doi.org/10.1203/00006450-197404000-00295
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