Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.

Journal Article (Journal Article)

The clinical and biochemical features of an infant affected by holocarboxylase synthetase deficiency are presented. The patient was the sibling of the deceased child in whose cultured skin fibroblasts the precise enzymatic disorder was first determined. This fact permitted administration of specific therapy in the form of oral biotin, resulting in immediate improvement from impending respiratory failure and shock. The clinical response to biotin was accompanied by recovery of the biochemical mechanisms known to be biotin-dependent, as manifested by disappearance of intermediates in urine and blood. The variability of biotin responsiveness and the diversity of clinical presentation in the patients originally thought to have a deficiency of beta methylcrotonylCoA carboxylase, a biotin-dependent enzyme, raises the question of a separate, specific apocarboxylase defect.

Full Text

Duke Authors

Cited Authors

  • Roth, KS; Yang, W; Foremann, JW; Rothman, R; Segal, S

Published Date

  • May 1980

Published In

Volume / Issue

  • 96 / 5

Start / End Page

  • 845 - 849

PubMed ID

  • 7365583

International Standard Serial Number (ISSN)

  • 0022-3476

Digital Object Identifier (DOI)

  • 10.1016/s0022-3476(80)80554-3


  • eng

Conference Location

  • United States