Disease Information for Combined carboxylase/Biotinidase deficiency

Synonyms:

CARBOXYLASE DEFIC COMBINED, CARBOXYLASE DEFIC MULTIPLE, Carboxylase Deficiencies Combined, Carboxylase Deficiencies Multiple, Carboxylase Deficiency Combined, Carboxylase Deficiency Multiple, COMBINED CARBOXYLASE DEFIC, Combined Carboxylase Deficiencies, Combined Carboxylase Deficiency, DEFIC COMBINED CARBOXYLASE, DEFIC MULTIPLE CARBOXYLASE, Deficiencies Combined Carboxylase, Deficiencies Multiple Carboxylase, Deficiency Combined Carboxylase, Deficiency Multiple Carboxylase, MULTIPLE CARBOXYLASE DEFIC, Multiple Carboxylase Deficiencies, Multiple carboxylase deficiency

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CARBOXYLASE DEFIC COMBINED, CARBOXYLASE DEFIC MULTIPLE, Carboxylase Deficie... (more)

Definition:

Metabolic enzyme defect causes organic acidosis in children and infants; A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism; The neonataSerum biotinidase (BTD) catalyzes the hydrolysis of biocytin, a normal product of biotin-dependent carboxylase degradation, to biotin and lysine; The process results in the regeneration of free biotin. Biotin is an essential water-soluble vitamin and is the coenzyme for 4 carboxylases necessary for normal metabolism in humans: pyruvate carboxylase (PCC), propionyl-CoA carboxylase (PCCA), alpha-methylcrotonyl-CoA carboxylase (see acetyl-CoA carboxylase)

MULTIPLE CARBOXYLASE DEFICIENCY Multiple carboxylase deficiency is caused by defects in incorporating biotin into the carboxylases that act on propionyl-CoA, 3-methylcrotonyl-CoA,acetyl-CoA, and pyruvate; It can be the result of deficiency of holocarboxylase synthetase, which attaches biotin to the apocarboxylases, or of biotinidase, which makes biotin available for the synthetase reaction by

releasing it from the peptide form (biocytin) in which most of it exists in nature; Both conditions produce a triad of alopecia, skin rash, and encephalopathy, and are inherited as autosomal recessive traits; l form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY; The late-onset form is due to BIOTINIDASE DEFICIENCY; a cause of primary lactic acidosis hypotonia and lactic acidosis infancy; 3 hydroxyisovaleric acid in urine, lesser urine methylcitric and 3-hydroxyproprionic acid concentrations; biotin responsive often; rare enzyme defect autosomal recessive; variable presentation but always at risk for neurologic problems; second type is usually biotin responsive; same urine acids but older children; alopecia, seborrheic rash, ataxia; diagnosis by Biotinase assay of serum; holocarboxylase in leukocyts or fibroblasts. treatment with large dose biotin (10-20 mgm/day); Multiple carboxylase/biotinidase deficiency Holocarboxylase synthase or biotinidase cause Metabolic ketoacidosis, diffuse rash, alopecia, seizures, and mentalretardation

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