TY - JOUR
T1 - Gyrate Atrophy of the Choroid and Retina
T2 - Biochemical Considerations and Experience with an Arginine-Restricted Diet
AU - Valle, David
AU - Walser, Mackenzie
AU - Brusilow, Saul
AU - Kaiser-Kupfer, Muriel I.
AU - Takki, Kirsti
N1 - Funding Information:
Support for this work was provided in part by Grant EY 02948 from the National Eye Institute and by Grant RR-52 from the General Clinical Research Centers Program of the Division of Research Resources, National Institutes of Health.
PY - 1981
Y1 - 1981
N2 - Ornithine-δ-aminotransferase deficiency is the primary biochemical defect in gyrate atrophy of the choroid and retina and results in the characteristic accumulation of ornithine. An additional consequence of this inborn error is that arginine, the precursor of ornithine, becomes an essential amino acid. Therefore, to reduce the accumulated ornithine, we placed nine gyrate atrophy patients on an argininerestricted diet. Plasma ornithine decreased by 50 to 85% within one month. Orally administered, a-aminoisobutyric acid facilitated the reduction in ornithine by augmenting renal losses. Over the long term, three patients have maintained near normal plasma ornithine concentrations from 4 to 32 months. Two patients have maintained less striking reductions in ornithine, and four have either been poorly controlled or have terminated the diet. Urinary losses of arginine and ornithine in gyrate atrophy patients with high or low plasma ornithine concentrations are less than 50% of the estimated arginine intake. This observation suggests that the bulk of ingested arginine is somehow metabolized despite the severe reduction in ornithine-δ-aminotransferase activity.
AB - Ornithine-δ-aminotransferase deficiency is the primary biochemical defect in gyrate atrophy of the choroid and retina and results in the characteristic accumulation of ornithine. An additional consequence of this inborn error is that arginine, the precursor of ornithine, becomes an essential amino acid. Therefore, to reduce the accumulated ornithine, we placed nine gyrate atrophy patients on an argininerestricted diet. Plasma ornithine decreased by 50 to 85% within one month. Orally administered, a-aminoisobutyric acid facilitated the reduction in ornithine by augmenting renal losses. Over the long term, three patients have maintained near normal plasma ornithine concentrations from 4 to 32 months. Two patients have maintained less striking reductions in ornithine, and four have either been poorly controlled or have terminated the diet. Urinary losses of arginine and ornithine in gyrate atrophy patients with high or low plasma ornithine concentrations are less than 50% of the estimated arginine intake. This observation suggests that the bulk of ingested arginine is somehow metabolized despite the severe reduction in ornithine-δ-aminotransferase activity.
KW - arginine-restricted diet
KW - gyrate atrophy of the choroid and retina
KW - ornithine
KW - ornithine-δ-aminotransferase.
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U2 - 10.1016/S0161-6420(81)35028-3
DO - 10.1016/S0161-6420(81)35028-3
M3 - Article
C2 - 7254778
AN - SCOPUS:0019445775
SN - 0161-6420
VL - 88
SP - 325
EP - 330
JO - Ophthalmology
JF - Ophthalmology
IS - 4
ER -