Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.

doi:10.1203/00006450-199809000-00019

Back to search

Article

Gyrate atrophy of the choroid and retina: lymphocyte ornithine-delta-aminotransferase activity in different mutations and carriers.

Pediatric research - 1 Sept 1998

Heinänen K, Näntö-Salonen K, Leino L, Pulkki K, Heinonen O, Valle D, Simell O

Abstract excerpt

Deficiency of omithine-delta-aminotransferase (OAT) causes gyrate atrophy of the choroid and retina with hyperornithinemia (GA; McKusick 258870), a progressive autosomal recessive chorioretinal degeneration leading to early blindness. As residual enzyme activity may vary in different mutations of...

Topics

Adolescent
Adult
Child
Child, Preschool
Enzyme Activation
Gyrate Atrophy
Humans
Infant
Lymphocytes
Mutation
Ornithine-Oxo-Acid Transaminase

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.