Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening;Das einhalten klinscher richtlinien verbessert die prognose bei glutarazidurie typ 1

Klinische Padiatrie

Volumn 222, Issue 1, 2010, Pages 35-37

  Holiner I ^a   Simma, B ^a   Reiter, A ^a   Sass, J O ^b   Zschocke, J ^c   Huemer, M ^d  

^a Landeskrankenhaus Feldkirch   (Austria)

^b UNIVERSITY OF FREIBURG   (Germany)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d GENERAL HOSPITAL KLAGENFURT   (Austria)

Author keywords

Glutaric aciduria type I; Glutaryl CoA dehydrogenase gene; Macrocephaly; Newborn screening

Indexed keywords

ARTICLE; CASE REPORT; CHILD; HUMAN; MALE; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN SCREENING; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT CARE; PRACTICE GUIDELINE; PRESCHOOL CHILD; TREATMENT OUTCOME;

AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; CARNITINE; CEPHALOMETRY; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; DIAGNOSIS, DIFFERENTIAL; DIET, PROTEIN-RESTRICTED; DNA MUTATIONAL ANALYSIS; EXONS; GENES, RECESSIVE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; GUIDELINE ADHERENCE; HUMANS; INFANT; INFANT, NEWBORN; LYSINE; MAGNETIC RESONANCE IMAGING; MALE; NEONATAL SCREENING; PROGNOSIS; TRYPTOPHAN;

EID: 76649097980     PISSN: 03008630     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0029-1239525     Document Type: Article

References (11)

1. Christensen E, etal. Correlation of genotype and phenotype in glutaryl- CoA dehydrogenase deficiency. J Inherit Metab Dis 2004 27 861-868
2. Frauendienst-Egger G, etal. Metabolic-Information-Centre: Online Datenbank für angeborene Stoffwechselerkrankungen. Klin Padiatr 2009 221 110
3. Goodman SI, etal. Glutaric aciduria; a new disorder of amino acid metabolism. Biochem Med 1975 12 12-21
4. Harting I, etal. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain 2009 132 (Pt7) 1764-1782
5. Hoffmann GF, etal. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics 1996 27 115-123
6. Kölker S, etal. Guidelines for the diagnosis and management of glutaryl- CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherited Metab Dis 2007 30 5-22
7. Kölker S, etal. Decline of acute encephalopathic crisis in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Ped Res 2007 62 357-363
8. Kölker S, etal. Natural history, outcome and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 2006 59 840-847
9. Prietsch V, etal. Emergency management of inherited metabolic diseases. J Inherit Metab Dis 2002 25 531-546
10. Schulze A, etal. Expanded newborn screening for inborn errors of metabolism by electospray ionization-tandem mass spectrometry: Results, outcome and implications. Pediatrics 2003 111 1399-1406
11. Zschocke J, etal. Mutation analysis in glutaric aciduria type I. J Med Genet 2000 37 177-181