The first reported HLCS gene mutation causing holocarboxylase synthetase deficiency in a Vietnamese patient.

Abstract excerpt

BACKGROUND: Holocarboxylase synthetase deficiency is an inborn error of biotin metabolism leading to multiple carboxylase deficiency which is often biotin responsive. This disease is believed to be relatively common among the Asian population. METHODS: A 6-year-old Vietnamese boy presented with recurrent episodes of severe metabolic acidosis precipitated by intercurrent illnesses. An extensive skin rash was...

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