Disorders


 

MMADHC-Related Methylmalonic Acidemia


Synonym(s): MMADHC-Related Methylmalonic Aciduria

 

OMIM

GeneLocusProtein
MMADHC2q23Methylmalonic aciduria and homocystinuria type D protein

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA  
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Targeted mutation analysis
  

* 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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