GLUTATHIONURIA

Disease	GLUTATHIONURIA
Synonym	GAMMA-GLUTAMYL-TRANSPEPTIDASE DEFICIENCY
OMIM	231950 OMIM = Online Mendelian Inheritance of Men
Orphanet	33573
Protein (UniProt)	Glutathione hydrolase 1 proenzyme
ExPASy	2.3.2.2
Gene locus	22q11.1-q11.2 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Gamma-glutamyltransferase-1
ICD	E72.8
Summary	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