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Summary
gamma-GLUTAMYL-TRANSPEPTIDASE DEFICIENCY
GLUTATHIONURIA
231950
OMIM = Online Medalian Inheritance of Men
33573
22q11.1-q11.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • avoidance of specific drugs
very rare autosomal recessive
symptoms
behavior, abnormal or bizarre, confusion
mental retardation
onset, infant
psychosis
tall stature
laboratory finding
Glutathione0.000.00 increasedurineno data
gamma-Glutamylcysteine0.000.00 increasedurineno data
Cysteine0.000.00 increasedurineno data
gamma-Glutamyl transpeptidase decreased activityserum
gamma-Glutamylglutamine0.000.00 increasedurineno data
Literature
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Miyajima HAceruloplasminemia, an iron metabolic disorderNeuropathology234345-3502003
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Anderson KEThe porphyriasPhysicians guide to the laboratory diagnosis of metabolic diseases Chapman & Hall, London00437-4511996
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996
Hatanaka Yet al.Aceruloplasminemia with juvenile-onset diabetes mellitus caused by exon skipping in the ceruloplasmin geneIntern Med427599-6042003
Hoffmann GFOrganic acid analysisin Blau N, Duran M, Blaskovics E (eds): in Physicians guuide to the laboratory diagnosis of metabolic diseases Chapman and Hall, London0031-491996