Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives

Elon Pras*, Ilan Kochba, Aharon Lubetzky, Mordechai Pras, Yechezkel Sidi, Daniel L. Kastner

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Cystinuria is a hereditary disorder manifested by the development of kidney stones. Three subtypes of the disease have been described, based on urinary excretion of cystine and the dibasic amino acids in heterozygotes, and oral loading tests in homozygotes. Cystinuria is very common among Libyan Jews living in Israel. Recently, we mapped the disease-causing gene in Libyan Jews to 19q, and have shown a very strong founder effect. In this report we present the results of biochemical and clinical studies performed on Libyan Jewish cystinuria patients and members of their families. High levels of cystine and the dibasic amino acids in heterozygotes support previous data that cystinuria in Libyan Jews is a non-type I disease. Oral loading tests performed with lysine showed some degree of intestinal absorption, but less than in normal controls. Previous criteria for determining the disease type, based solely on urinary amino acid levels, proved useless due to a very wide range of cystine and the dibasic amino acids excreted by the heterozygotes. Urinary cystine levels were useful in distinguishing between unaffected relatives and heterozygotes, but were unhelpful in differentiating between heterozygotes and homozygotes. Urinary levels of ornithine or arginine, and the sum of urinary cystine and the dibasic amino acids, could distinguish between the last two groups. Among stone formers, 90% were homozygotes and 10% were heterozygotes; 15% of the homozygotes were asymptomatic.

Original languageEnglish
Pages (from-to)173-176
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - 2 Nov 1998
Externally publishedYes


  • Amino acids
  • Cystinuria
  • Libyan Jews
  • Oral loading test


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