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. 1971 Feb;46(245):72–81. doi: 10.1136/adc.46.245.72

Low Proline Diet in Type 1 Hyperprolinaemia

J T Harries, A T Piesowicz, J W T Seakins, D E M Francis, O H Wolff
PMCID: PMC1647575  PMID: 5555491

Abstract

A diagnosis of Type I hyperprolinaemia was made in a 7-month-old infant who presented with hypocalcaemic convulsions and malabsorption. The plasma levels of proline were grossly raised and the urinary excretion of proline, hydroxyproline, and glycine was increased; neurological development was delayed and there were associated abnormalities of the electroencephalogram, renal tract, and bones. Restriction of dietary proline at the age of 9 months resulted in a prompt fall of plasma levels of proline to normal, and a low proline diet was continued until the age of 27 months when persistence of the biochemical defect was shown. During the period of dietary treatment, growth was satisfactory, mental development improved, and the electroencephalogram, and the renal, skeletal, and intestinal abnormalities disappeared. Proline should be regarded as a `semi-essential' amino acid in the growing infant.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Adkins J. S., Wertz J. M., Hove E. L. Influence of nonessential L-amino acids on growth of rats fed high levels of essential L-amino acids. Proc Soc Exp Biol Med. 1966 Jun;122(2):519–523. doi: 10.3181/00379727-122-31178. [DOI] [PubMed] [Google Scholar]
  2. Brenton D. P., Cusworth D. C., Dent C. E., Jones E. E. Homocystinuria. Clinical and dietary studies. Q J Med. 1966 Jul;35(139):325–346. [PubMed] [Google Scholar]
  3. CHINARD F. P. Photometric estimation of proline and ornithine. J Biol Chem. 1952 Nov;199(1):91–95. [PubMed] [Google Scholar]
  4. EFRON M. L., BIXBY E. M., PRYLES C. V. HYDROXYPROLINEMIA. II. A RARE METABOLIC DISEASE DUE TO A DEFICIENCY OF THE ENZYME "HYDROXYPROLINE OXIDASE". N Engl J Med. 1965 Jun 24;272:1299–1309. doi: 10.1056/NEJM196506242722501. [DOI] [PubMed] [Google Scholar]
  5. EFRON M. L. FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT. N Engl J Med. 1965 Jun 17;272:1243–1254. doi: 10.1056/NEJM196506172722401. [DOI] [PubMed] [Google Scholar]
  6. Efron M. L. Treatment of hydroxyprolinemia and hyperprolinemia. Am J Dis Child. 1967 Jan;113(1):166–169. doi: 10.1001/archpedi.1967.02090160216037. [DOI] [PubMed] [Google Scholar]
  7. Goyer R. A., Mitchell B. J., Leonard D. L. Dietary reduction of hyperprolinemia. J Lab Clin Med. 1969 May;73(5):819–824. [PubMed] [Google Scholar]
  8. Holt L. E., Jr Amino acid requirements of infants. Curr Ther Res Clin Exp. 1967 Mar;9(3 Suppl):149–156. [PubMed] [Google Scholar]
  9. Jürgens P., Dolif D. Die Bedeutung nichtessentieller Aminosäuren für den Stickstoffhaushalt des Menschen unter parenteraler Ernährung. Klin Wochenschr. 1968 Feb 1;46(3):131–143. doi: 10.1007/BF01727371. [DOI] [PubMed] [Google Scholar]
  10. Laster L., Mudd S. H., Finkelstein J. D., Irreverre F. Homocystinuria due to cystathionine synthase deficiency: the metabolism of L-methionine. J Clin Invest. 1965 Oct;44(10):1708–1719. doi: 10.1172/JCI105278. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Piesowicz A. T. Hyperprolinaemia. Arch Dis Child. 1968 Dec;43(232):748–748. doi: 10.1136/adc.43.232.748-a. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. ROSE W. C., WIXOM R. L., LOCKHART H. B., LAMBERT G. F. The amino acid requirements of man. XV. The valine requirement; summary and final observations. J Biol Chem. 1955 Dec;217(2):987–995. [PubMed] [Google Scholar]
  13. SCHAFER I. A., SCRIVER C. R., EFRON M. L. Familial hyperprolinemia, cerebral dysfunction and renal anomalies occuring in a family with hereditary nephropathy and deafness. N Engl J Med. 1962 Jul 12;267:51–60. doi: 10.1056/NEJM196207122670201. [DOI] [PubMed] [Google Scholar]
  14. Stănescu V., Florea I., Ionescu V., Dinulescu E., Stănescu R. L-proline loading test in growth disturbances. Helv Paediatr Acta. 1968 Apr;23(2):147–153. [PubMed] [Google Scholar]
  15. WESTALL R. G. DIETARY TREATMENT OF A CHILD WITH MAPLE SYRUP URINE DISEASE (BRANCHED-CHAIN KETOACIDURIA). Arch Dis Child. 1963 Oct;38:485–491. doi: 10.1136/adc.38.201.485. [DOI] [PMC free article] [PubMed] [Google Scholar]

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