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biotinidase deficiency (BTD deficiency); late-onset multiple carboxylase deficiency

Pathology: - juvenile form of multiple carboxylase deficiency - disorder of biotin metabolism Genetics: - autosomal recessive - associated with defects in BTD Clinical manifestations: - dermatitis - seizures - hypotonia - alopecia - ataxia - hearing loss - optic atrophy Laboratory: - ketoacidosis - blood ammonia: hyperammonemia - urinary excretion of abnormal organic acid metabolites - serum biotinidase is low or absent * also see ARUP consult [2] Complications: - if untreated, symptoms usually become progressively worse, & coma & death may occur Management: - treatment with massive doses of biotin

Related

biotinidase; biotinase; (BTD)

General

enzyme deficiency inborn error of metabolism

Database Correlations

OMIM 253260

References

  1. OMIM :accession 253260
  2. 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