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Summary
GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
GCLC
230450
OMIM = Online Medalian Inheritance of Men
33574
6p12.1
rare
autosomal recessive

symptoms
anemia
ataxia
cognitive impairment
hemolytic anemia
jaundice
myopathy
onset, childhood
onset, infancy
onset, neonatal
peripheral neuropathy
laboratory finding
Hemoglobine g/dlblood
Retikulocytes /-Álblood
Glutathione nmol/mg Hberythrocytes
Literature
Bokhari SRA,Mansur ABartter SyndromeStatPearls Internet002019
Filippatos TD,et al.Gitelman syndrome: an analysis of the underlying pathophysiologic mechanisms of acid-base and electrolyte abnormalitiesInt Urol Nephrol002017
Bokhari SRA,Mansur ABartter SyndromeStatPearls Internet002019
Gitelman Syndrome Collaborative Study GroupExpert consensus for the diagnosis and treatment of patients with Gitelman syndromeZhonghua Nei Ke Za Zhi569712-7162017
Bokhari SRA,Mansur ABartter SyndromeStatPearls Internet002019
Bokhari SRA,Mansur ABartter SyndromeStatPearls Internet002019