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The excretion of amino acids by cystinuric patients and their relatives

The excretion of amino acids by cystinuric patients and their relatives BY J. C. CRAWHALL,* P. PURKISS,* R. W. E. WATTS? AND E. P. YOUNG$ The Medical Professorial Unit (Dunn Laboratories), St Bartholomew’s Hospital, London, E.G. 1 Dent & Harris (1951) differentiated classical cystinuria with increased excretion of lysine and arginine from other conditions in which the urinary excretion of cystine is increased as part of a generalized amino aciduria. Harris, Mittwoch, Robson & Warren (1955) studied the genetics of the disorder and proposed that the affected families should be classified as ‘recessive ’ or ‘incompletely recessive ’, there being no detectable abnormality in the presumably heterozygous individuals in the former group whereas the heterozygous members of the ‘incompletely recessive ’ families have detectable abnormalities in their excretion of cystine and/or the basic amino acids. Harris & Robson (1955) also concluded on the basis of genetic evidence that recessive cystinuria includes more than one genetic entity but that incompletely recessive cystinuria is genetically homogeneous. Rosenberg ‘and his colleagues classified cystinuric patients into types I, I1 and I 1 on the basis of the ability of the patients’ jejunal mucosa to transport isoto1 pically labelled amino acids in witro (Rosenberg & Segal, 1965; Rosenberg, Durant & Holland, 1965; Rosenberg, Downing, http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

The excretion of amino acids by cystinuric patients and their relatives

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References (18)

Publisher
Wiley
Copyright
Copyright © 1969 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/j.1469-1809.1969.tb01641.x
Publisher site
See Article on Publisher Site

Abstract

BY J. C. CRAWHALL,* P. PURKISS,* R. W. E. WATTS? AND E. P. YOUNG$ The Medical Professorial Unit (Dunn Laboratories), St Bartholomew’s Hospital, London, E.G. 1 Dent & Harris (1951) differentiated classical cystinuria with increased excretion of lysine and arginine from other conditions in which the urinary excretion of cystine is increased as part of a generalized amino aciduria. Harris, Mittwoch, Robson & Warren (1955) studied the genetics of the disorder and proposed that the affected families should be classified as ‘recessive ’ or ‘incompletely recessive ’, there being no detectable abnormality in the presumably heterozygous individuals in the former group whereas the heterozygous members of the ‘incompletely recessive ’ families have detectable abnormalities in their excretion of cystine and/or the basic amino acids. Harris & Robson (1955) also concluded on the basis of genetic evidence that recessive cystinuria includes more than one genetic entity but that incompletely recessive cystinuria is genetically homogeneous. Rosenberg ‘and his colleagues classified cystinuric patients into types I, I1 and I 1 on the basis of the ability of the patients’ jejunal mucosa to transport isoto1 pically labelled amino acids in witro (Rosenberg & Segal, 1965; Rosenberg, Durant & Holland, 1965; Rosenberg, Downing,

Journal

Annals of Human Genetics – Wiley

Published: Oct 1, 1969

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