Methylmalonic aciduria with homocystinuria cbl f
Other Names for this Disease
- CblF defect
- Cobalamin F defect
- Combined defect in adenosylcobalamin and methylcobalamin synthesis
- Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
- Lysosomal membrane cobalamin transporter deficiency
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Tests & Diagnosis
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. 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
- Irini Manoli and Charles P Venditti. Methylmalonic Acidemia. GeneReviews. September 28, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1231/. Accessed 6/18/2012.
- 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.