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Arch Dis Child. 1988 November; 63(11): 1363–1367.
PMCID: PMC1779164

Late onset ornithine carbamoyl transferase deficiency in males.

Abstract

Six boys with ornithine carbamoyl transferase deficiency presenting in infancy or later childhood are described. There was wide variation in both the time of presentation and the symptoms, which may initially suggest a neurological, behavioural, or gastroenterological problem. Two patients died, as did two male siblings who were probably affected, but with early recognition of the hyperammonaemia the outlook is good.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Levin B, Dobbs RH, Burgess EA, Palmer T. Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase. Arch Dis Child. 1969 Apr;44(234):162–169. [PMC free article] [PubMed]
  • Saudubray JM, Cathelineau L, Charpentier C, Boisse J, Allaneau C, Le Bont H, Lesage B. D'eficit hérditaire en ornithine-carbamyl-transférase avec anomalie enzymatique qualitative. Relation d'une forme à révelation néonatale et d'evolution rapidement mortelle chez un garçon. Arch Fr Pediatr. 1973 Jan;30(1):15–27. [PubMed]
  • Krieger I, Snodgrass PJ, Roskamp J. Atypical clinical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye's disease). J Clin Endocrinol Metab. 1979 Mar;48(3):388–392. [PubMed]
  • van der Heiden C, Bakker HD, Desplanque J, Brink M, de Bree PK, Wadman SK. Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency. Eur J Pediatr. 1978 Jul 19;128(4):261–272. [PubMed]
  • Kendall BE, Kingsley DP, Leonard JV, Lingam S, Oberholzer VG. Neurological features and computed tomography of the brain in children with ornithine carbamoyl transferase deficiency. J Neurol Neurosurg Psychiatry. 1983 Jan;46(1):28–34. [PMC free article] [PubMed]
  • Harris ML, Oberholzer VG. Conditions affecting the colorimetry of orotic acid and orotidine in urine. Clin Chem. 1980 Mar;26(3):473–479. [PubMed]
  • Letarte J, Qureshi IA, Ouellet R, Godard M. Chronic benzoate therapy in a boy with partial ornithine transcarbamylase deficiency. J Pediatr. 1985 May;106(5):794–797. [PubMed]
  • Yokoi T, Honke K, Funabashi T, Hayashi R, Suzuki Y, Taniguchi N, Hosoya M, Saheki T. Partial ornithine transcarbamylase deficiency simulating Reye syndrome. J Pediatr. 1981 Dec;99(6):929–931. [PubMed]
  • Yudkoff M, Yang W, Snodgrass PJ, Segal S. Ornithine transcarbamylase deficiency in a boy with normal development. J Pediatr. 1980 Mar;96(3 Pt 1):441–443. [PubMed]
  • Saudubray JM, Cathelineau L, Laugier JM, Charpentier C, Lejeune JA, Mozziconacci P. Hereditary ornithine transcarbamylase deficiency. Report of two male cases with residual enzymatic activity. Acta Paediatr Scand. 1975 May;64(3):464–472. [PubMed]
  • Landrieu P, François B, Lyon G, Van Hoof F. Liver peroxisome damage during acute hepatic failure in partial ornithine transcarbamylase deficiency. Pediatr Res. 1982 Dec;16(12):977–981. [PubMed]
  • Stöckler S, Grossschädl F, Bachmann C, Roscher A. Ornithine transcarbamylase variant in a male patient. J Inherit Metab Dis. 1987;10(3):272–272. [PubMed]
  • Coskun T, Ozalp I, Mönch S, Kneer J. Lethal hyperammonaemic coma due to ornithine transcarbamylase deficiency presenting as brain stem encephalitis in a previously asymptomatic ten-year-old boy. J Inherit Metab Dis. 1987;10(3):271–271. [PubMed]
  • Tallan HH, Schaffner F, Taffet SL, Schneidman K, Gaull GE. Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis. Pediatrics. 1983 Feb;71(2):224–232. [PubMed]
  • DiMagno EP, Lowe JE, Snodgrass PJ, Jones JD. Ornithine transcarbamylase deficiency--a cause of bizarre behavior in a man. N Engl J Med. 1986 Sep 18;315(12):744–747. [PubMed]
  • Brusilow SW, Valle DL, Batshaw M. New pathways of nitrogen excretion in inborn errors of urea synthesis. Lancet. 1979 Sep 1;2(8140):452–454. [PubMed]
  • Walter JH, Leonard JV. Inborn errors of the urea cycle. Br J Hosp Med. 1987 Sep;38(3):176–183. [PubMed]

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