Threoninemia--a new metabolic defect
Reddi, O.S.
Journal of Pediatrics 93(5): 814-816
1978
ISSN/ISBN: 0022-3476 PMID: 712492 Document Number: 125437
An 8 mo. old boy is presented with convulsions and growth retardation. Oral amino acid load tests reveal elevated serum and urine concentrations of threonine. A defect in 1 of 3 degradative enzyme systems is suggested as the metabolic defect.
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