Ornithine Aminotransferase Deficiency

Ornithine Aminotransferase Deficiency [OAT]: Gyrate atrophy of the choroid and retina due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence.

Canavan Disease [ASPA]: Progressive disease of the central nervous system presenting with poor head control, generalized weakness, macrocephaly, seizures, regression of early developmental milestones, and severe mental retardation.

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