Preferred Label : Biotinidase deficiency;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Multiple carboxylase deficiency, late-onset; Multiple carboxylase deficiency, juvenile-onset; Btd deficiency;
Description : Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder
characterized primarily by cutaneous and neurologic abnormalities. Symptoms result
from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman (1981)
recognized that multiple carboxylase deficiency could be classified into early and
late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric
acid and 3-hydroxypropionic acid than the late form and was associated with normal
plasma biotin concentrations. Sweetman (1981) proposed a defect in holocarboxylase
synthetase and intestinal biotin absorption, respectively.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the biotinidase gene (BTD, 253260.0001);
Laboratory abnormalities : Organic aciduria (elevated beta-hydroxyisovalerate, lactate, beta-methylcrotonylglycine,
beta-hydroxypropionate, methylcitrate); Mild hyperammonemia; Biotinidase deficiency;
Prefixed ID : #253260;
Origin ID : 253260;
UMLS CUI : C0220754;
- Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)