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Summary
GLUTATHIONURIA
GAMMA-GLUTAMYL-TRANSPEPTIDASE DEFICIENCY
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, infancy
psychomotor retardation
psychosis
tall stature
laboratory finding
Cysteinyl leukotrienes (LTE4) decreasedurine
Cysteinyl leukotrienes (LTC4) increasedurine
Glutathione0.000.00 increasedurineno data
gamma-Glutamylcysteine0.000.00 increasedurineno data
Cysteinyl leukotrienes (LTD4)0.000.00 decreasedurineno data
gamma-Glutamyl transpeptidase decreased activityserum
gamma-Glutamylglutamine0.000.00 increasedurineno data
Cysteinyl leukotrienes (LTC4) decreasedplasma
Cysteinyl leukotrienes (LTD4) decreasedplasma
Cysteinyl leukotrienes (LTE4) decreasedurine
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