GLUTATHIONURIA | |
GAMMA-GLUTAMYL-TRANSPEPTIDASE DEFICIENCY | |
231950
OMIM = Online Mendelian Inheritance of Men | |
33573 | |
Glutathione hydrolase 1 proenzyme | |
2.3.2.2 | |
22q11.1-q11.2 Detail information to gene locus by the National Center for Biotechnology Information NCBI: |
|
E72.8 | |
very rare (6 cases) autosomal recessive | |
Laboratory findings | Cysteinyl leukotrienes (LTC4) inc (urine) Cysteinyl leukotrienes (LTC4) inc (plasma) Cysteinyl leukotrienes (LTD4) dec (plasma) Cysteinyl leukotrienes (LTD4) dec (urine) Cysteinyl leukotrienes (LTE4) dec (urine) Cysteinyl leukotrienes (LTE4) dec (urine) gamma-Glutamyl transferase (GGT) inc (serum) gamma-Glutamyl transpeptidase dec (serum) gamma-Glutamylglutamine inc (urine) Glutathione inc (urine) |
Symptoms | behavior, abnormal or bizarre, confusion developmental delay mental retardation no consistent clinical picture onset, infancy psychomotor retardation psychosis tall stature |