- Concept UI
- M0014194
- Scope Note
- A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
- Terms
-
Multiple Carboxylase Deficiency
Preferred Term
Term UI
T027204
Date01/01/1999
LexicalTag
NON
ThesaurusID
NLM (1987)
-
Carboxylase Deficiency, Combined
Term UI
T027199
Date04/18/1986
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Deficiency, Combined Carboxylase
Term UI
T027200
Date04/18/1986
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Combined Carboxylase Deficiency
Term UI
T027201
Date04/18/1986
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Deficiency, Multiple Carboxylase
Term UI
T027202
Date04/18/1986
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Carboxylase Deficiency, Multiple
Term UI
T027203
Date04/18/1986
LexicalTag
NON
ThesaurusID
UNK (19XX)