Visit Metagene.de!
Summary
HYPERCYSTINURIA -> MOVED TO CYSTINURIA
HYPERCYSTINNURIA, ISOLATED
220100
OMIM = Online Medalian Inheritance of Men
214
unknown
rare
autosomal recessive
probably heterozygotes for cystinuria!
symptoms
Amino acids, urine
no clinical signs or symptoms
laboratory finding
L-Cystine 12.0048.00increasedurine
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994