Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany

Pediatrics

Volumn 110, Issue 6 I, 2002, Pages 1204-1211

  Klose, Daniela A ^a   Kölker, Stefan ^a   Heinrich, Beate ^b   Prietsch, Viola ^a   Mayatepek, Ertan ^a   Von Kries, Rüdiger ^c   Hoffmann, Georg F ^a,d  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^c UNIVERSITY OF MUNICH   (Germany)

^d NONE   (Germany)

Author keywords

Epidemiology; ESPED; Fatty acid oxidation disorders; Neonatal screening; Organic acid disorders

Indexed keywords

CARBOXYLIC ACID; FATTY ACID; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ARTICLE; CHILDHOOD DISEASE; CONTROLLED STUDY; DATA BASE; ENZYME DEFICIENCY; FATTY ACID OXIDATION DISORDER; FEMALE; GERMANY; HEALTH SURVEY; HUMAN; INBORN ERROR OF METABOLISM; INCIDENCE; INFANT; MAJOR CLINICAL STUDY; MALE; MORBIDITY; MORTALITY; NEWBORN; NEWBORN SCREENING; ORGANIC ACID DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; QUESTIONNAIRE; SYMPTOM;

3-HYDROXYACYL COA DEHYDROGENASES; ACETYL-COA C-ACYLTRANSFERASE; ACIDOSIS; ACYL-COA DEHYDROGENASES; AMINO ACID METABOLISM, INBORN ERRORS; CARBON-CARBON DOUBLE BOND ISOMERASES; ENOYL-COA HYDRATASE; FEMALE; GERMANY; HUMANS; INCIDENCE; INFANT; INFANT, NEWBORN; LIPID METABOLISM, INBORN ERRORS; MALE; METABOLISM, INBORN ERRORS; NEONATAL SCREENING; OXIDATION-REDUCTION; OXIDOREDUCTASES; PROSPECTIVE STUDIES; RACEMASES AND EPIMERASES; SEX DISTRIBUTION;

EID: 0036895771     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.110.6.1204     Document Type: Article

References (33)

1. Matsui SM, Mahoney MJ, Rosenberg LE. The natural history of the inherited methylmalonic acidemias. N Engl J Med. 1983;308:857-861
2. Barth PG, Hoffmann GF, Jaeken J, et al. L-2-Hydroxyglutaric acidemia: A novel inherited neurometabolic disease. Ann Neurol. 1992;32:66-71
3. Hilliges C, Awiszus D, Wendel U. Intellectual performance of children with maple syrup urine disease. Eur J Pediatr. 1993;152:144-147
4. Hoffmann GF, Charpentier C, Mayatepek E, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics. 1993; 91:915-921
5. Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D. Neurological manifestations of organic acid disorders. Eur J Pediatr. 1994;153(suppl 1):S94-S100
6. Hoffmann GF, Athanassopoulos S, Burlina AB, et al. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics. 1996;27:115-123
7. Iafolla AK, Thompson RJ, Roe CR. Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children. J Pediatr. 1994;124:409-415
8. Lehnert W, Sperl W, Suormala T, Baumgartner ER. Propionic acidaemia: Clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr. 1994;153(suppl 1):S68-S80
9. Boles RG, Buck EA, Blitzer MG, et al. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. J Pediatr. 1998;132:924-933
10. Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics. 1998;29:14-22
11. Pollitt RJ, Leonard JV. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK. Arch Dis Child. 1998;79: 116-119
12. Mathur A, Sims HF, Gopalakrishnan D, et al. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation. 1999;99:1337-1343
13. Van der Knaap MS, Jakobs C, Hoffmann GF, et al. D-2-Hydroxyglutaric aciduria: Biochemical marker or clinical disease entity? Ann Neurol. 1999;45:111-119
14. Bjugstad KB, Goodman SI, Freed CR. Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric acidemia type I. J Pediatr. 2000;137:681-686
15. Matalon RM, Michals-Matalon K. Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings. Front Biosci. 2000;5:D307-D311
16. Andresen BS, Dobrowolski SF, O'Reilly L, et al. Medium-chain acylCoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet. 2001;68:1408-1418
17. Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW. Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem. 2001;47:1166-1182
18. Corydon MJ, Vockley J, Rinaldo P, et al. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 2001;49:18-23
19. Gregersen N, Andresen BS, Corydon MJ, et al. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Hum Mutat. 2001;18:169-189
20. Pouffarzam M, Morris A, Appleton M, Craft A, Bartlett K. Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet. 2001;358:1063-1064
21. Hoffmann GF. Selective screening for inborn errors of metabolism -Past, present and future. Eur J Pediatr. 1994;153(suppl 1):S2-S8
22. Rashed MS, Ozand PT, Bucknall MP, Little D. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res. 1995;324-331
23. Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999;14(suppl 1):S4-S8
24. Seymour CA, Thomason MJ, Chalmers RA, et al. Newborn screening for inborn errors of metabolism: A systematic review. Health Technol Assess. 1997;i-iv:1-95
25. Zytkovicz TH, Fitzgerald EF, Marsden D, et al. Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: A two-year summary from the New England Newborn Screening Program. Clin Chem. 2001;47:1945-1955
26. Wiley V, Carpenter K, Wilcken B. Newborn screening with tandem mass spectrometry: 12 Months' experience in NSW Australia. Acta Paediatr Suppl. 1999;432:48-51
27. Rashed MS. Clinical application of tandem mass spectrometry: Ten years of diagnosis and screening for inherited metabolic diseases. J Chromatr B Biomed Sci Appl. 2001;758:27-48
28. Vreken P, van Lint AE, Bootsma AH, Overmars H, Wanders RJ, van Gennip AH. Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acid and fatty acid oxidation defects. J Inherit Metab Dis. 1999;22:302-306
29. Von Kries R, Heinrich B, Hermann M. Pädiatrische epidemiologie in Deutschland: Forschungsinstrument ESPED (Erhebungseinheit für seltene pädiatrische erkrankungen in Deutschland). Monatsschr Kinderheilkd. 2001;149:1191-1197
30. Hook EB, Regal RR. Capture-recapture methods in epidemiology: Methods and limitations. Epidemiol Rev. 1995;17:243-264
31. International Working Group for Disease Monitoring and Forecasting. Capture-recapture and multiple-record systems estimation. I. History and theoretical development. Atn J Epidemiol. 1995;142:1047-1058
32. Chapman DG. Some Properties of the Hypergeometric Distribution With Applications to Zoological Sample Censuses. Berkeley, CA: University of California Publications in Statistics; 1951:131-160
33. Roscher AA, Fingerhut R, Liebl B, Olgemöller B. Erweiterung des neugeborenenscreenings durch tandemmassenspektrometrie. Monatsschr Kinderheilkd. 2001;149:1297-1303