3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase deficiency) is an uncommon inherited disorder in which the body cannot process a particular protein building block (amino acid) called leucine. Additionally, the disorder prevents the body ...1

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Symptoms List: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Symptoms and clinical features may include:2 Clinical Features of 3- Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency:

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Genetics of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Genetic Changes: Mutations in the HMGCL gene cause HMG-CoA lyase deficiency . The HMGCL gene provides instructions for making an enzyme known as 3-hydroxymethyl-3-methylglutaryl-coenzyme A lyase (HMG-CoA lyase). This enzyme plays a critical role in ...3

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ 3-hydroxy-3-methylglutaryl-coa-lyase-deficiency
  2. Source: Human Phenotype Ontology
  3. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ 3-hydroxy-3-methylglutaryl-coa-lyase-deficiency

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