Visit Metagene.de!
Summary
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY
ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
300908
OMIM = Online Medalian Inheritance of Men
466026
Xq28
  • avoidance of specific drugs
rare
X-linked recessive
> 160 molecular variants
symptoms
anemia
gallstones, cholelithiasis
hemolysis
hydrops fetalis
infections (severe or recurrent)
jaundice
kernicterus
no clinical signs or symptoms
onset, childhood
onset, neonatal
pain, abdominal
splenomegaly (large spleen)
laboratory finding
Bilirubin 3.4017.00increasedserum
Hemoglobine 12.0015.00decreasedblood
Retikulocytes 1.0015.00increasedblood
Literature
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Uusimaa J,et al.Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 geneEur J Hum Genet222184-1912014
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Briones Pet al.Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type IaJ Inherit Metab Dis258635-6462002
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
New Author000