| Descriptor English: | Multiple Carboxylase Deficiency | ||||||
| Descriptor Spanish: |
Deficiencia Múltiple de Carboxilasa
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| Descriptor Portuguese: | Deficiência Múltipla de Carboxilase | ||||||
| Descriptor French: | Déficit multiple en carboxylases | ||||||
| Entry term(s): |
Carboxylase Deficiencies, Combined Carboxylase Deficiencies, Multiple Carboxylase Deficiency, Combined Carboxylase Deficiency, Multiple Combined Carboxylase Deficiencies Combined Carboxylase Deficiency Deficiencies, Combined Carboxylase Deficiencies, Multiple Carboxylase Deficiency, Combined Carboxylase Deficiency, Multiple Carboxylase Multiple Carboxylase Deficiencies |
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| Tree number(s): |
C16.320.565.100.620 C16.320.565.202.720 C18.452.648.100.620 C18.452.648.202.720 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D009100 | ||||||
| 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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
specific enzyme (1966-1974) specific enzyme/deficiency (1975-1986) |
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| Public MeSH Note: | 87 |
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| History Note: | 87 |
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| Entry Version: | MULTIPLE CARBOXYLASE DEFIC |
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| Related: |
Biotin
MeSH | ||||||
| DeCS ID: | 19252 | ||||||
| Unique ID: | D009100 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1987/01/01 | ||||||
| Date of Entry: | 1986/04/18 | ||||||
| Revision Date: | 2006/07/05 |
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Multiple Carboxylase Deficiency
- Preferred
| 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. |
| Preferred term | Multiple Carboxylase Deficiency |
| Entry term(s) |
Carboxylase Deficiencies, Combined Carboxylase Deficiencies, Multiple Carboxylase Deficiency, Combined Carboxylase Deficiency, Multiple Combined Carboxylase Deficiencies Combined Carboxylase Deficiency Deficiencies, Combined Carboxylase Deficiencies, Multiple Carboxylase Deficiency, Combined Carboxylase Deficiency, Multiple Carboxylase Multiple Carboxylase Deficiencies |
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