Disorders


 

Methylmalonate Semialdehyde Dehydrogenase Deficiency


Synonym(s): MMSDH Deficiency, MMSDHD

 

OMIM

GeneLocusProtein
ALDH6A114q24Methylmalonate-semialdehyde dehydrogenase [acylating]

Laboratory Test Method Prenatal Carrier *
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands• Analyte
  

* 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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