 Multiple Carboxylase Deficiency
"Multiple Carboxylase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D009100
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| MeSH 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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| Concept/Terms |
Multiple Carboxylase Deficiency- Multiple Carboxylase Deficiency
- Carboxylase Deficiencies, Multiple
- Deficiencies, Multiple Carboxylase
- Multiple Carboxylase Deficiencies
- Deficiency, Combined Carboxylase
- Deficiency, Multiple Carboxylase
- Carboxylase Deficiency, Multiple
- Carboxylase Deficiency, Combined
- Carboxylase Deficiencies, Combined
- Combined Carboxylase Deficiencies
- Deficiencies, Combined Carboxylase
- Combined Carboxylase Deficiency
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Below are MeSH descriptors whose meaning is more general than "Multiple Carboxylase Deficiency".
Below are MeSH descriptors whose meaning is more specific than "Multiple Carboxylase Deficiency".
This graph shows the total number of publications written about "Multiple Carboxylase Deficiency" by people in this website by year, and whether "Multiple Carboxylase Deficiency" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Multiple Carboxylase Deficiency" by people in Profiles.
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Larson AA, Balasubramaniam S, Christodoulou J, Burrage LC, Marom R, Graham BH, Diaz GA, Glamuzina E, Hauser N, Heese B, Horvath G, Mattman A, van Karnebeek C, Lane Rutledge S, Williamson A, Estrella L, Van Hove JKL, Weisfeld-Adams JD. Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion. 2019 01; 44:58-64.
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