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Familial hyperargininaemia.
Arch Dis Child. 1975 Jan; 50(1):57-62.AD

Abstract

A third case of hyperargininaemia occurring in one family was studied from birth. In cord blood serum arginine concentration was only slightly raised, but arginase activity in red blood cell haemolysates was very low. In the urine on day 2 a typical cystinuria pattern was present. Arginine concentration in serum increased to 158 mumol/100 ml on the 41st day of life. Later determinations of the arginase activity in peripheral blood showed values below the sensitivity of the method. Blood ammonia was consistently high, and cystinuria was present. The enzymatic defect was further displayed by intravenous loading tests with arginine. Serum urea values were predominantly normal or near the lower limit of normal, suggesting the presence of other metabolic pathways of urea synthesis. In urine there was no excretion of guanidinosuccinic acid, while the excretion of other monosubstituted guanidine derivatives was increased, pointing to a connexion with hyperargininaemia. Owing to parental attitude, a low protein diet (1-5 g/kg) was introduced only late. The infant developed severe mental retardation, athetosis, and spasticity.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

1124944

Citation

Terheggen, H G., et al. "Familial Hyperargininaemia." Archives of Disease in Childhood, vol. 50, no. 1, 1975, pp. 57-62.
Terheggen HG, Lowenthal A, Lavinha F, et al. Familial hyperargininaemia. Arch Dis Child. 1975;50(1):57-62.
Terheggen, H. G., Lowenthal, A., Lavinha, F., & Colombo, J. P. (1975). Familial hyperargininaemia. Archives of Disease in Childhood, 50(1), 57-62.
Terheggen HG, et al. Familial Hyperargininaemia. Arch Dis Child. 1975;50(1):57-62. PubMed PMID: 1124944.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial hyperargininaemia. AU - Terheggen,H G, AU - Lowenthal,A, AU - Lavinha,F, AU - Colombo,J P, PY - 1975/1/1/pubmed PY - 1975/1/1/medline PY - 1975/1/1/entrez SP - 57 EP - 62 JF - Archives of disease in childhood JO - Arch. Dis. Child. VL - 50 IS - 1 N2 - A third case of hyperargininaemia occurring in one family was studied from birth. In cord blood serum arginine concentration was only slightly raised, but arginase activity in red blood cell haemolysates was very low. In the urine on day 2 a typical cystinuria pattern was present. Arginine concentration in serum increased to 158 mumol/100 ml on the 41st day of life. Later determinations of the arginase activity in peripheral blood showed values below the sensitivity of the method. Blood ammonia was consistently high, and cystinuria was present. The enzymatic defect was further displayed by intravenous loading tests with arginine. Serum urea values were predominantly normal or near the lower limit of normal, suggesting the presence of other metabolic pathways of urea synthesis. In urine there was no excretion of guanidinosuccinic acid, while the excretion of other monosubstituted guanidine derivatives was increased, pointing to a connexion with hyperargininaemia. Owing to parental attitude, a low protein diet (1-5 g/kg) was introduced only late. The infant developed severe mental retardation, athetosis, and spasticity. SN - 1468-2044 UR - https://www.unboundmedicine.com/medline/citation/1124944/Familial_hyperargininaemia_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1124944/ DB - PRIME DP - Unbound Medicine ER -