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GTR Home > Conditions/Phenotypes > 3-methylcrotonyl-CoA carboxylase 1 deficiency

3-methylcrotonyl-CoA carboxylase 1 deficiency

Synonyms
3 Alpha methylcrotonylglycinuria 1; MCC 1 deficiency; MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency; MCCD TYPE 1; METHYLCROTONYLGLYCINURIA TYPE I

Summary

3-Methylcrotonylglycinuria is an autosomal recessive disorder of leucine catabolism. The clinical phenotype is highly variable, ranging from neonatal onset with severe neurologic involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. MCC activity in extracts of cultured fibroblasts of patients is usually less than 2% of control (summary by Baumgartner et al., 2001). Also see 3-methylcrotonylglycinuria II (MCC2D; 210210), caused by mutation in the beta subunit of 3-methylcrotonyl-CoA carboxylase (MCCC2; 609014). [from OMIM]

Available tests

67 tests are in the database for this condition.

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Clinical tests (67 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MCC-B, MCCA, MCCCalpha, MCCC1
    Summary: methylcrotonyl-CoA carboxylase subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Clinical resources

Practice guidelines

  • ACMG ACT, 2022
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022
  • ACMG Algorithm, 2022
    American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 2022

Molecular resources

Consumer resources

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