Natural course of glutamine synthetase deficiency in a 3year old patient

Molecular Genetics and Metabolism

Volumn 103, Issue 1, 2011, Pages 89-91

  Häberle, Johannes ^a   Shahbeck, Noora ^b   Ibrahim, Khalid ^b   Hoffmann, Georg F ^c   Ben Omran, Tawfeg ^b,d,e  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^b HAMAD MEDICAL CORPORATION   (Qatar)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d WEILL CORNELL MEDICAL COLLEGE   (United States)

^e NONE

Author keywords

Arab; Chronic encephalopathy; Glutamine synthetase; Hyperammonemia; Neonatal onset seizures; Qatar consanguinity

Indexed keywords

GLUTAMATE AMMONIA LIGASE; GLUTAMIC ACID; GLUTAMINE;

AMINO ACID BLOOD LEVEL; AMINO ACID DEFICIENCY; ANAMNESIS; ARTICLE; ARTIFICIAL VENTILATION; BRADYCARDIA; BRAIN ATROPHY; BRAIN DISEASE; CASE REPORT; CHILD; DISEASE COURSE; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; GLUTAMINE DEFICIENCY; GRAND MAL SEIZURE; HUMAN; HYPERAMMONEMIA; HYPERREFLEXIA; MALE; MUSCLE HYPOTONIA; MYELINATION; NEUROLOGIC EXAMINATION; NEWBORN DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; TONIC CLONIC SEIZURE; TRACHEOSTOMY; WHITE MATTER;

BRAIN DISEASES, METABOLIC; CHILD, PRESCHOOL; EXANTHEMA; GLUTAMATE-AMMONIA LIGASE; HUMANS; HYPERAMMONEMIA; MALE; MUTATION;

EID: 79955161364     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.02.001     Document Type: Article

References (12)

1. Häussinger D. Hepatic glutamine transport and metabolism. Adv. Enzymol. Relat. Areas Mol. Biol. 1998, 72:43-86.
2. Häussinger D. Nitrogen metabolism in liver: structural and functional organization and physiological relevance. Biochem. J. 1990, 267:281-290.
3. Suarez I., Bodega G., Fernandez B. Glutamine synthetase in brain: effect of ammonia. Neurochem. Int. 2002, 41:123-142.
4. Vermeulen T., Görg B., Vogl T., Wolf M., Varga G., Toutain A., Paul R., Schliess F., Häussinger D., Häberle J. Glutamine synthetase is essential for proliferation of fetal skin fibroblasts. Arch. Biochem. Biophys. 2008, 478:96-102.
5. He Y., Hakvoort T.B., Vermeulen J.L., Lamers W.H., Van Roon M.A. Glutamine synthetase is essential in early mouse embryogenesis. Dev. Dyn. 2007, 236:1865-1875.
6. Häussinger D., Sies R. Glutamate Metabolism in Mammalian Tissues 1984, 3-15. Springer, Berlin. D. Häussinger, R. Sies (Eds.).
7. Häberle J., Görg B., Rutsch F., Schmidt E., Toutain A., Benoist J.F., Gelot A., Suc A.L., Höhne W., Schliess F., Häussinger D., Koch H.G. Congenital glutamine deficiency with glutamine synthetase mutations. N. Engl. J. Med. 2005, 353:1926-1933.
8. Häberle J., Görg B., Toutain A., Rutsch F., Benoist J.F., Gelot A., Suc A.L., Koch H.G., Schliess F., Häussinger D. Inborn error of amino acid synthesis: human glutamine synthetase deficiency. J. Inherit. Metab. Dis. 2006, 29:352-358.
9. Krajewski W.W., Collins R., Holmberg-Schiavone L., Jones T.A., Karlberg T., Mowbray S.L. Crystal structures of mammalian glutamine synthetases illustrate substrate-induced conformational changes and provide opportunities for drug and herbicide design. J. Mol. Biol. 2008, 375:217-228.
10. Görg B., Qvartskhava N., Voss P., Grune T., Häussinger D., Schliess F. Reversible inhibition of mammalian glutamine synthetase by tyrosine nitration. FEBS Lett. 2007, 581:84-90.
11. Häussinger D., Görg B., Reinehr R., Schliess F. Protein tyrosine nitration in hyperammonemia and hepatic encephalopathy. Metab. Brain Dis. 2005, 20:285-294.
12. Häussinger D., Sies H., Gerok W. Functional hepatocyte heterogeneity in ammonia metabolism. The intercellular glutamine cycle. J. Hepatol. 1985, 1:3-14.