Holocarboxylase Synthetase Deficiency: A Treatable Metabolic Disorder Masquerading as Cerebral Palsy

Mosheh Livne, K. Michael Gibson, Naomi Amir, Gideon Eshel, Orly N. Elpeleg

Research output: Contribution to journalArticlepeer-review

Abstract

A 20-month-old boy of Jewish-Turkish origin presented with severe metabolic acidosis. He was born prematurely and had bacteremia during the neonatal period. Scaly skin eruption, developmental delay, generalized muscular hypertonia, and mild ventriculomegaly were noted during the 1st year. Holocarboxylase synthetase deficiency was diagnosed, and biotin and carnitine were administered. The skin rash and the organic aciduria resolved within several days, and at 30 months, his psychomotor development was appropriate for age. Metabolic evaluation should be performed in patients with combined neurologic and dermatologic symptoms even when medical history suggests a nonmetabolic etiology. (J Child Neurol 1994;9:170-172).

Original languageEnglish
Pages (from-to)170-172
Number of pages3
JournalJournal of Child Neurology
Volume9
Issue number2
DOIs
StatePublished - Apr 1994
Externally publishedYes

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