Two Japanese brothers with hereditary γ-glutamyl transpeptidase deficiency

Journal of Inherited Metabolic Disease

Volumn 28, Issue 1, 2005, Pages 49-55

  Iida, M ^a   Yasuhara, T ^b   Mochizuki, H ^c   Takakura, H ^a   Yanagisawa, T ^a   Kubo, H ^d  

^a SAITAMA CARDIOVASCULAR AND RESPIRATORY CENTER   (Japan)

^b TOKYO UNIVERSITY OF AGRICULTURE   (Japan)

^c SAITAMA CHILDREN'S MEDICAL CENTER   (Japan)

^d KITASATO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CITRULLINE; CYSTEINE; CYSTEINYLGLYCINE; GAMMA GLUTAMYLCYSTEINE; GAMMA GLUTAMYLTRANSFERASE; GLUTATHIONE;

ADULT; AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; AMINO ACID URINE LEVEL; ARTICLE; AUTOANALYZER; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; GAMMA GLUTAMYLTRANSFERASE DEFICIENCY; HUMAN; JAPAN; MALE; MARFAN SYNDROME; MENTAL DEFICIENCY; SIBLING; TALL STATURE; URINARY EXCRETION;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACIDS; BOROHYDRIDES; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CYSTEINE; DIPEPTIDES; FAMILY HEALTH; GAMMA-GLUTAMYLTRANSFERASE; GLUTATHIONE; HUMANS; JAPAN; MALE; MARFAN SYNDROME; MIDDLE AGED; SIBLINGS; TIME FACTORS;

EID: 13844266212     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10545-005-4417-8     Document Type: Article

References (8)

1. Goodman SI, Mace JW, Pollak S (1971) Serum gamma-glutamyl transpeptidase deficiency. Lancet 1: 234-235.
2. Griffith OW, Meister A (1980) Excretion of cysteine and γ-glutamylcysteine moieties in human and experimental animal γ-glutamyl transpeptidase deficiency. Proc Natl Acad Sci USA 77: 3384-3387.
3. Hammond JW, Potter M, Wilcken B, Truscott R (1995) Siblings with γ-glutamyl transferase deficiency. J Inherit Metab Dis 18: 82-83.
4. Harding CO, William P, Wagner E (1997) Mice with genetic γ-glutamyl transpeptidase deficiency exhibit glutathionuria, severe growth failure, reduced life spans, and infertility. J Biol Chem 272: 12560-12567.
5. O'Daly S (1968) An abnormal sulphydryl compound in urine. Irish J Med Sci 7: 578-579.
6. Schulman JD, Goodman SI, Mace JW, Patrick AD, Tietze F, Butler EJ (1975) Glutathionuria: Inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase. Biochem Biophys Res Commun 65 68-74.
7. Yasuhara T, Nokihara K (1998) Quantitative determination of biological sulfhydryl groups by postcolumn derivatization and elucidation of microheterogeneity of serum albumins. Anal Chem 70: 3505-3509.
8. Wright EC, Stern J, Ersser R, Patrick AD (1979) Glutathionuria: γ-glutamyl transpeptidase deficiency. J Inherit Metab Dis 2: 3-7.