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Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.
- Source :
-
The Journal of pediatrics [J Pediatr] 1980 May; Vol. 96 (5), pp. 845-9. - Publication Year :
- 1980
-
Abstract
- 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.
- Subjects :
- Amino Acid Metabolism, Inborn Errors drug therapy
Amino Acids blood
Amino Acids cerebrospinal fluid
Apoproteins deficiency
Apoproteins metabolism
Biotin deficiency
Biotin metabolism
Chromatography, Ion Exchange
Humans
Infant
Infant, Newborn
Ligases metabolism
Amino Acid Metabolism, Inborn Errors etiology
Biotin therapeutic use
Carbon-Nitrogen Ligases
Ligases deficiency
Renal Aminoacidurias etiology
Subjects
Details
- Language :
- English
- ISSN :
- 0022-3476
- Volume :
- 96
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- The Journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 7365583
- Full Text :
- https://doi.org/10.1016/s0022-3476(80)80554-3