Version 2.78

Description

The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN. Source: National Library of Medicine, MeSH 2006

Basic Part Properties

Part Display Name
Biotinidase deficiency
Part Type
Component (Describes the core component or analyte measured)
Created On
2006-09-01
Construct for LOINC Short Name
BIOT

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP56771-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 生物素化物酶缺陷
Synonyms: BIOT
fr-CA French (Canada) Déficit en biotinidase
et-EE Estonian (Estonia) Biotinidaasi puudulikkus
es-ES Spanish (Spain) Deficiencia de Biotinidasa
it-IT Italian (Italy) Biotinidasi, deficit
Synonyms: Deficit di biotinidasi
tr-TR Turkish (Turkey) Biyotinidaz yetmezliği
ru-RU Russian (Russian Federation) Биотинидаза недостаточность
Synonyms: Недостаточность биотинидазы
nl-NL Dutch (Netherlands) biotinidasedeficiëntie
Synonyms: biotinidase deficientie
fr-BE French (Belgium) Déficit en biotinidase