Alpha-amino adipic aciduria: a rare psychomotor syndrome

B. A. Sela, T. Massos, D. Fogel, J. Zlotnik

Research output: Contribution to journalArticlepeer-review

Abstract

A 3.5-year-old boy with developmental motor retardation, hypotonicity, and severe speech disturbance had alpha-amino adipic acid in his blood and very high levels in his urine. In only 20 cases has this catabolite of lysine and hydroxylysine been found in high concentrations in urine, due to enzymatic block. The clinical features associated with alpha-amino adipic aciduria may include mental retardation, developmental and motor delay, learning difficulties, convulsions, speech problems and ataxia. 3 siblings had milder symptoms of psychomotor delay and intermediate degrees of alpha amino-adipic aciduria, suggesting that the described developmental deficits could be related to this metabolite or its derivatives.

Original languageEnglish
Pages (from-to)451-453, 511
JournalHarefuah
Volume137
Issue number10
StatePublished - 15 Nov 1999
Externally publishedYes

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