Abstract
Persistent hypermethioninemia unassociated with homocystinuria, cystathioninuria, or liver disease has been reported in a clinically normal infant (Science 186:59, 1974). We know of two unreported cases and have recently encountered a fourth case in a 9-month-old infant evaluated for apparent blindness and developmental delay.
Pregnancy was complicated in the first trimester by excessive alcohol intake, ten-pound weight loss, and ingestion of diethylpropion HC1 (Tenuate). Birth weight was 2460 gm., small for gestational age of 39 weeks, with APGAR's of 71 and 105 following fetal distress. Family history was not contributory. At nine months the baby was unable to fixate or follow and had roving, nystagmoid eye movements with poor pupillary reactions to light. Optic discs were less than one-half the normal size for age. A 3-4 month lag was seen in motor and language development. EEG showed occipital spike discharges. CT scan demonstrated enlarged occipital horns of the lateral ventricles. Serum methionine value was 164 μmoles/dl (normal 2.7 ± 0.5). All other serum amino acid concentrations were normal. Urine amino acids and organic acids were normal except for elevated methionine. Spinal fluid methionine was 14.5 μmoles/dl (normal 0.26 ± 0.16). The ratio of serum to spinal fluid methionine was 11.3 (normal 9-13).
A link between the findings of isolated hypermethioninemia and optic nerve hypoplasia is suggested by the association of hyperornithinemia and gyrate atrophy of the retina as well as homocystinuria and ectopia lentis.
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Herskowitz, J., Rosman, N. & Levy, H. 1130 ISOLATED HYPERMETHIONINEMIA WITH BILATERAL OPTIC NERVE HYPOPLASIA. Pediatr Res 12 (Suppl 4), 552 (1978). https://doi.org/10.1203/00006450-197804001-01136
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DOI: https://doi.org/10.1203/00006450-197804001-01136