biotinidase deficiency (BTD deficiency); late-onset multiple carboxylase deficiency
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Pathology
- juvenile form of multiple carboxylase deficiency
- disorder of biotin metabolism
Genetics
- autosomal recessive
- associated with defects in BTD
Clinical manifestations
Laboratory
- ketoacidosis
- blood ammonia: hyperammonemia
- urinary excretion of abnormal organic acid metabolites
- serum biotinidase is low or absent
Complications
- if untreated, symptoms usually become progressively worse, & coma & death may occur
Management
- treatment with massive doses of biotin
More general terms
Additional terms
References
- ↑ OMIM https://mirror.omim.org/entry/253260
- ↑ 2.0 2.1 ARUP Consult: Biotinidase Deficiency The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/biotinidase-deficiency
Biotinidase Deficiency (BTD) Sequencing https://arupconsult.com/ati/biotinidase-deficiency-btd-sequencing