ethylmalonic encephalopathy

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ethylmalonic encephalopathy2016-12-03T14:19:56+00:00

ethylmalonic encephalopathy

METABOLISM, NEUROLOGY

Definition An autosomal recessive disorder (OMIM:602473) characterised by neurodevelopmental delay and regression, recurrent petechiae, acrocyanosis, diarrhoea, and death in the first decade of life.

Lab Persistent lactic acidaemia, ethylmalonic and methylsuccinic aciduria.

Molecular pathology Defects of ETHE1, which encodes sulphur dioxygenase, a mitochondrial enzyme that breaks down H2S, a cytochrome c oxidase-inhibiting toxin, cause ethylmalonic encephalopathy.

References http://www.uniprot.org/uniprot/O95571

http://www.omim.org/entry/602473

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