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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Methylmalonic aciduria with homocystinuria cbl f


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Tests & Diagnosis

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How is methylmalonic aciduria with homocystinuria cbl f diagnosed?

The diagnosis of disorders of methylmalonic aciduria with homocystinuria cbl f relies on clinical exams and biochemical testing (urine organic acid analysis and plasma amino acid analysis). Diagnosis is confirmed by genetic testing.[1] To view a list of labs offering genetic testing for this condition, please visit the "Tests and Diagnosis" section: http://rarediseases.info.nih.gov/gard/3584/methylmalonic-aciduria-with-homocystinuria-cbl-f/resources/12
Last updated: 3/5/2014

References
  1. Irini Manoli and Charles P Venditti. Methylmalonic Acidemia. GeneReviews. September 28, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1231/. Accessed 6/18/2012.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.