Disorders

MMAA-Related Methylmalonic Acidemia

Synonym(s): MMAA-Related Methylmalonic Aciduria, MMAA-Related Methylmalonicaciduria

Gene	Locus	Protein
MMAA	4q31.1	Methylmalonic aciduria type A protein

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
Hôpital Robert Debré, Biochimie Hormonologie - Paris, France
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.