Disorders


 

MCEE-Related Methylmalonic Acidemia


Synonym(s): MCEE-Related Methylmalonic Aciduria, Methylmalonyl-CoA Epimerase Deficiency

 

OMIM

GeneLocusProtein
MCEE2p13.3Methylmalonyl-CoA epimerase, mitochondrial

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Hôpital Robert Debré, Biochimie Hormonologie - Paris, France• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands• Sequence analysis of the entire coding region

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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