Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia

Developmental Medicine and Child Neurology

Volumn 50, Issue 2, 2008, Pages 157-159

  Lang, Tim F ^a,e   Parr, J R ^b   Matthews, E E ^a   Gray, R G F ^c   Bonham, J R ^d   Kay, J D S ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^e ROYAL VICTORIA HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE;

AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CEREBROSPINAL FLUID LEVEL; CHILD DEVELOPMENT; CLINICAL ASSESSMENT; FEMALE; FOLLOW UP; HUMAN; HYPERGLYCINEMIA; INFANT; LIVER BIOPSY; LIVER LEVEL; PRIORITY JOURNAL;

AMINO ACIDS; DIAGNOSIS, DIFFERENTIAL; FEMALE; GLYCINE; HUMANS; HYPERGLYCINEMIA, NONKETOTIC; INFANT, NEWBORN; LIVER; TIME FACTORS;

EID: 38349025866     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/j.1469-8749.2007.02003.x     Document Type: Article

References (15)

1. Hamosh A, Johnston MV. (2001) Nonketotic hyperglycinemia. In:
2. Scriver CR, Beaudet AL, Valle D, Sly WS, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill. p 2065-2078.
3. Luder AS, Davidson A, Goodman SI, Greene CL. (1989) Transient nonketotic hyperglycinemia in neonates. J Pediatr 114: 1013-1015.
4. Schiffmann R, Kaye EM, Willis JK, Africk D, Ampola M. (1989) Transient neonatal hyperglycinemia. Ann Neurol 25: 201-203.
5. Steinman GS, Yudkoff M, Berman PH, Blazer-Yost B, Segal S. (1979) Late onset nonketotic hyperglycinemia and spinocerebellar degeneration. J Pediatr 94: 907-911.
6. Eyskens FJM, Van Doorn JWD, Marien P. (1992) Neurologic sequelae in transient nonketotic hyperglycinemia of the neonate. J Pediatr 121: 620-621.
7. Korman SH, Gutman AG. (2002) Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia). Dev Med Child Neurol 44: 712-720.
8. Dinopoulos A, Matsubara Y, Kure S. (2005) Atypical variants of neoketotic hyperglycinemia. Mol Genet Metab 86: 61-69.
9. Zammarchi E, Donati MA, Ciani F. (1995) Transient neonatal nonketotic hyperglycinemia of the neonate: A 13-year follow-up. Neuropediatrics 26: 328-330.
10. Kure S, Narisawa K, Tada K. (1992) Enzymatic diagnosis of nonketotic hyperglycinemia with lymphoblasts. J Pediatr 120: 95-98.
11. Bellman M, Longam S, Aukett A. (1996) Schedule of Growing Skills. 2nd edn. London: NferNelson.
12. Jones CM, Smith M, Henderson MJ. (2006) Reference data for cerebrospinal fluid and the utility of amino acid measurement for the diagnosis of inborn errors of metabolism. Ann Clin Biochem 43: 63-66.
13. Maeda T, Inutsuka M, Goto K, Izumi T. (2000) Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures. Pediatr Neurol 22: 225-227.
14. Roldán A, Figueras-Aloy J, Jiménez R. (1999) Glycine and other neurotransmitter amino acids in cerebrospinal fluid in perinatal asphyxia and neonatal hypoxic-ischaemic encephalopathy. Acta Paediatr 88: 1137-1141.
15. Kure S, Kato K, Dinopoulus A, Gail C, deGrauw TJ, Chistodoulou J, Bzduch V, Kalmanchey R, Fekete G, Trojovsky A, et al. (2006) Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat 27: 343-352.