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Metadata
ID DOID:0050712
Name AGAT deficiency
Definition An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.
http://en.wikipedia.org/wiki/Arginine:glycine_amidinotransferase#Deficiency
Xrefs

MIM:612718
Synonyms

arginine glycine amidinotransferase deficiency [EXACT]

Cerebral creatine deficiency syndrome 3 [EXACT]
Parent Relationships

is_a cerebral creatine deficiency syndrome

is_a autosomal recessive disease
Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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