| Descriptor English: | Holocarboxylase Synthetase Deficiency | ||||||
| Descriptor Spanish: |
Deficiencia de Holocarboxilasa Sintetasa
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| Descriptor Portuguese: | Deficiência de Holocarboxilase Sintetase | ||||||
| Descriptor French: | Déficit en holocarboxylase synthétase | ||||||
| Entry term(s): |
Carboxylase Deficiency, Multiple, Neonatal Form Deficiencies, HLCS Deficiencies, Holocarboxylase Synthetase Deficiency, HLCS Deficiency, Holocarboxylase Synthetase Deficiency, Multiple Carboxylase, Neonatal Form Early Onset Biotin Responsive Multiple Carboxylase Deficiency Early Onset Combined Carboxylase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Combined Carboxylase Deficiency HLCS Deficiencies HLCS Deficiency Holocarboxylase Synthetase Deficiencies Infantile Multiple Carboxylase Deficiency Multiple Carboxylase Deficiency, Early Onset Multiple Carboxylase Deficiency, Neonatal Form |
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| Tree number(s): |
C16.320.565.100.620.380 C16.320.565.202.720.380 C18.452.648.100.620.380 C18.452.648.202.720.380 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D028922 | ||||||
| Scope note: | The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase). |
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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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| Public MeSH Note: | 2002 |
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| History Note: | 2002 |
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| Entry Version: | HOLOCARBOXYLASE SYNTHETASE DEFIC |
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| Related: |
Biotin
MeSH | ||||||
| DeCS ID: | 36029 | ||||||
| Unique ID: | D028922 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2002/01/01 | ||||||
| Date of Entry: | 2001/07/25 | ||||||
| Revision Date: | 2013/07/08 |
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Holocarboxylase Synthetase Deficiency
- Preferred
| Concept UI |
M0381890 |
| Scope note | The neonatal form of MULTIPLE CARBOXYLASE DEFICIENCY that is caused by a defect or deficiency in holocarboxylase synthetase. HLCS is the enzyme that covalently links biotin to the biotin dependent carboxylases (propionyl-CoA-carboxylase, pyruvate carboxylase, and beta-methylcrotonyl-CoA carboxylase). |
| Preferred term | Holocarboxylase Synthetase Deficiency |
| Entry term(s) |
Carboxylase Deficiency, Multiple, Neonatal Form Deficiencies, HLCS Deficiencies, Holocarboxylase Synthetase Deficiency, HLCS Deficiency, Holocarboxylase Synthetase Deficiency, Multiple Carboxylase, Neonatal Form Early Onset Biotin Responsive Multiple Carboxylase Deficiency Early Onset Combined Carboxylase Deficiency Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency Early-Onset Combined Carboxylase Deficiency HLCS Deficiencies HLCS Deficiency Holocarboxylase Synthetase Deficiencies Infantile Multiple Carboxylase Deficiency Multiple Carboxylase Deficiency, Early Onset Multiple Carboxylase Deficiency, Neonatal Form |
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