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Disease Holocarboxylase Synthetase Deficiency

Name Holocarboxylase Synthetase Deficiency
Synonyms 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 Biotin-Responsive Multiple Carboxylase Deficiency | Early Onset Combined 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
Definition 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).
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D028922
OMIM® ID 253270
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Multiple Carboxylase Deficiency Has associated chemicals Has associated genes Holocarboxylase Synthetase Deficiency Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Multiple Carboxylase Deficiency Has associated chemicals Has associated genes Holocarboxylase Synthetase Deficiency Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Multiple Carboxylase Deficiency Has associated chemicals Has associated genes Holocarboxylase Synthetase Deficiency Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Multiple Carboxylase Deficiency Has associated chemicals Has associated genes Holocarboxylase Synthetase Deficiency Has associated chemicals Has associated genes

Top ↑ Descendants

None.