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Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.

Authors
Lee, EH; Kim, YH; Hwang, JS; Kim, SH
Citation
Journal of Korean medical science, 25(1):172-175, 2010
Journal Title
Journal of Korean medical science
ISSN
1011-89341598-6357
Abstract
Cystinuria is an inherited renal and intestinal disease characterized by defective amino acids reabsorption and cystine urolithiasis. It is unusually associated with neurologic symptoms. Mutations in two genes, SLC3A1 and SLC7A9, have been identified in cystinuric patients. This report presents a 13-yr-old boy with cystinuria who manifested difficulty in walking, ataxia, and mental retardation. Somatosensory evoked potential of posterior tibial nerve stimulation showed the central conduction dysfunction through the posterior column of spinal cord. He was diagnosed non-type I cystinuria by urinary amino acid analysis and oral cystine loading test. We screened him and his family for gene mutation by direct sequencing of SLC3A1 and SLC7A9 genes. In this patient, we identified new missence mutation G173R in SLC7A9 gene.
MeSH terms
AdolescentAmino Acid SubstitutionAmino Acid Transport Systems, Basic/*geneticsAmino Acids/urineAtaxia/complications/diagnosis/*geneticsBase SequenceCystine/bloodCystinuria/complications/diagnosis/*geneticsHumansMaleMental Retardation/complications/diagnosis/*genetics*Mutation, MissensePedigreeRepublic of Korea
DOI
10.3346/jkms.2010.25.1.172
PMID
20052367
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pediatrics & Adolescent Medicine
AJOU Authors
황진순김성환
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