Holocarboxylase Synthetase Deficiency

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).

Also Known As:

Deficiency, Holocarboxylase Synthetase; Deficiency, Multiple Carboxylase, Neonatal Form; Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency; Early-Onset Combined Carboxylase Deficiency; HLCS Deficiency; Infantile Multiple Carboxylase Deficiency; Multiple Carboxylase Deficiency, Early Onset; Deficiencies, HLCS; Deficiencies, Holocarboxylase Synthetase; Deficiency, HLCS; Early Onset Biotin Responsive Multiple Carboxylase Deficiency; Early Onset Combined Carboxylase Deficiency; HLCS Deficiencies; Holocarboxylase Synthetase Deficiencies; Carboxylase Deficiency, Multiple, Neonatal Form; Multiple Carboxylase Deficiency, Neonatal Form

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Multiple Carboxylase Deficiency: 117
        Holocarboxylase Synthetase Deficiency: 61
    - Inborn Errors Carbohydrate Metabolism
      - Multiple Carboxylase Deficiency: 117
        Holocarboxylase Synthetase Deficiency: 61
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Multiple Carboxylase Deficiency: 117
        Holocarboxylase Synthetase Deficiency: 61
    - Inborn Errors Carbohydrate Metabolism
      - Multiple Carboxylase Deficiency: 117
        Holocarboxylase Synthetase Deficiency: 61

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Lawrence T K Wong Research Topics

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