Holocarboxylase Synthetase Deficiency

Introduction: Holocarboxylase Synthetase Deficiency

Description of Holocarboxylase Synthetase Deficiency

Holocarboxylase Synthetase Deficiency (medical condition): An inherited disorder where the enzymes that use the vitamin biotin are defective.

See also:

Holocarboxylase synthetase deficiency:
  »Introduction: Holocarboxylase synthetase deficiency
  »Symptoms of Holocarboxylase synthetase deficiency

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).
Source: MeSH 2007

Holocarboxylase Synthetase Deficiency: Related Topics

These medical condition or symptom topics may be relevant to medical information for Holocarboxylase Synthetase Deficiency:

• Holocarboxylase Synthetase
• Synthetase
• Deficiency

Holocarboxylase Synthetase Deficiency as a Disease

Holocarboxylase Synthetase Deficiency (medical condition): See Holocarboxylase synthetase deficiency (disease information).
  »Introduction: Holocarboxylase synthetase deficiency
  »Symptoms of Holocarboxylase synthetase deficiency

More information on medical condition: Holocarboxylase synthetase deficiency:

• Information about Holocarboxylase synthetase deficiency
• Basic Summary for Holocarboxylase synthetase deficiency
• Symptoms of Holocarboxylase synthetase deficiency

Holocarboxylase Synthetase Deficiency: Related Disease Topics

These medical disease topics may be related to Holocarboxylase Synthetase Deficiency:

• inherited disorder
• biotin
• seizures
• coma
• delayed development
• alopecia
• lethargy
• dyspnea

Terms associated with Holocarboxylase Synthetase Deficiency:

Terms Similar to Holocarboxylase Synthetase Deficiency:

• Carboxylase Deficiency, Multiple, Neonatal Form
• Multiple Carboxylase Deficiency, Neonatal Form

Source - MeSH 2007

Related Topics

• Biotin

Source - MeSH 2007

Broader terms for Holocarboxylase Synthetase Deficiency

• Multiple Carboxylase Deficiency

Source - MeSH 2007

Hierarchical classifications of Holocarboxylase Synthetase Deficiency

The following list attempts to classify Holocarboxylase Synthetase Deficiency into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Amino Acid Metabolism, Inborn Errors
        • Multiple Carboxylase Deficiency
          • Holocarboxylase Synthetase Deficiency

MeSH 2007 Hierarchy

• Congenital, Hereditary, and Neonatal Diseases and Abnormalities
  • Genetic Diseases, Inborn
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors
        • Multiple Carboxylase Deficiency
          • Holocarboxylase Synthetase Deficiency

MeSH 2007 Hierarchy

• Nutritional and Metabolic Diseases
  • Metabolic Diseases
    • Metabolism, Inborn Errors
      • Amino Acid Metabolism, Inborn Errors
        • Multiple Carboxylase Deficiency
          • Holocarboxylase Synthetase Deficiency

MeSH 2007 Hierarchy

• Nutritional and Metabolic Diseases
  • Metabolic Diseases
    • Metabolism, Inborn Errors
      • Carbohydrate Metabolism, Inborn Errors
        • Multiple Carboxylase Deficiency
          • Holocarboxylase Synthetase Deficiency

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