Multiple carboxylase deficiency due to deficiency of biotinidase
Related Experiment Video
Updated: Oct 21, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Abstract:
A patient with biotinidase deficiency was studied in whom the first admission to hospital for acidosis occurred at 5 years of age. Sensorineural abnormalities of the optic and auditory nerves antedated diagnosis and treatment with biotin, and these sensory losses did not resolve with treatment. The other clinical manifestations of the disease were highly responsive to biotin. Biotinidase was assayed using 14C-labeled natural substrate. The activity in the patient approximated 1% of the control level.
Related Concept Videos
Pedigree Analysis
Allosteric Proteins-ATCase
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis pathway,...
Loss of Carboxy Group as CO2: Decarboxylation of β-Ketoacids
Vitamins
Inborn Errors of Metabolism
Sulfur Assimilation

