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 Name
Biotinidase deficiency
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