Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree
Arginine: glycine amidinotransferase (AGAT, EC 2.1. 4.1) deficiency is a recently recognized
autosomal recessive inborn error of creatine biosynthesis, characterized by mental
retardation and severe language impairment. We extensively investigated a third 5-year-old
patient with AGAT deficiency, discovered in the pedigree of the same Italian family as the
two index cases. At the age of 2 years he presented with psychomotor and language delay,
and autistic-like behavior. Brain MRI was normal, but brain 1H-MRS disclosed brain creatine …
autosomal recessive inborn error of creatine biosynthesis, characterized by mental
retardation and severe language impairment. We extensively investigated a third 5-year-old
patient with AGAT deficiency, discovered in the pedigree of the same Italian family as the
two index cases. At the age of 2 years he presented with psychomotor and language delay,
and autistic-like behavior. Brain MRI was normal, but brain 1H-MRS disclosed brain creatine …