Abstract
Keto acid dietary therapy of complete OTC deficiency in one male resulted in survival to 5 months of age (Pediatr. Res. 11: 511, 1977). We are treating similarly a male who presented with hyperammonemic coma at 3 days of age. The family history was positive and liver OTC activity was <0.1% of normal. Acute therapy relied on peritoneal dialysis. A major change in the dietary therapy has been severe protein restriction with the milk protein/kg/d progressively decreased from 1.09 gm at 3 weeks of age to 0.16 gm by 6 months. The intake of free amino acids has been adjusted frequently to 0.62 gm/kg/d of amino acids and 1.12 gm/kg/d of keto acids. Although the milk protein plus amino acid intake is now only 0.78 gm/kg/d, the minimum nitrogen intake for growth in patients with urea cycle defects is unknown. At 6 months of age the patient's weight was in the 50%ile and length slightly above the 3%ile. Developmental quotient was 50, which could be attributable to severe neonatal difficulties. Hematocrit was 40.4%, Hgb 11.5 gm/dl, total protein 6.2 gm/dl, and albumin 3.7 gm/dl. Serum glutamine has been a more sensitive index for dietary management than has blood ammonia which has remained normal since the neonatal period. Slight increases in glutamine have responded to increase in keto acid intake.
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Michels, V., Beaudet, A., Batshaw, M. et al. 542 DIETARY THERAPY OF ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY. Pediatr Res 12 (Suppl 4), 454 (1978). https://doi.org/10.1203/00006450-197804001-00547
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DOI: https://doi.org/10.1203/00006450-197804001-00547