Holocarboxylase Synthetase Deficiency

"Holocarboxylase Synthetase 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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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).

Descriptor ID

D028922

MeSH 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

Concept/Terms

Holocarboxylase Synthetase Deficiency

Below are MeSH descriptors whose meaning is more general than "Holocarboxylase Synthetase Deficiency".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
Multiple Carboxylase Deficiency [C16.320.565.100.620]
Holocarboxylase Synthetase Deficiency [C16.320.565.100.620.380]
Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
Multiple Carboxylase Deficiency [C16.320.565.202.720]
Holocarboxylase Synthetase Deficiency [C16.320.565.202.720.380]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
Multiple Carboxylase Deficiency [C18.452.648.100.620]
Holocarboxylase Synthetase Deficiency [C18.452.648.100.620.380]
Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
Multiple Carboxylase Deficiency [C18.452.648.202.720]
Holocarboxylase Synthetase Deficiency [C18.452.648.202.720.380]

Below are MeSH descriptors whose meaning is related to "Holocarboxylase Synthetase Deficiency".

Below are MeSH descriptors whose meaning is more specific than "Holocarboxylase Synthetase Deficiency".

publications

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