arginine:glycine amidinotransferase deficiency

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arginine:glycine amidinotransferase deficiency2016-11-24T20:31:17+00:00

arginine:glycine amidinotransferase deficiency

METABOLISM

Definition An autosomal recessive disorder (OMIM:612718) characterised by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and marked cerebral depletion of creatine/phosphocreatine. Most patients develop a myopathy characterised by muscle weakness and atrophy later in life.

Molecular pathology Defects of GATM, which encodes a mitochondrial enzyme involved in creatine biosynthesis, cause arginine:glycine amidinotransferase deficiency.

Synonyms AGAT deficiency, cerebral creatine deficiency syndrome 3, creatine deficiency syndrome due to AGAT deficiency, GATM deficiency 

References http://www.uniprot.org/uniprot/P50440

http://www.omim.org/entry/612718

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