Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms

Molecular Genetics and Metabolism

Volumn 95, Issue 1-2, 2008, Pages 39-45

  Waisbren, S E ^a   Levy, H L ^a   Noble, M ^a   Matern, D ^b   Gregersen, N ^c   Pasley, K ^a   Marsden, D ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b Departments of Laboratory Medicine and Pathology   (United States)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Newborn screening; Psychological follow up; Short chain acyl CoA dehydrogenase deficiency (SCADD)

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CLINICAL ARTICLE; COGNITION; CONTROLLED STUDY; ENVIRONMENTAL FACTOR; FEEDING; FEMALE; FOLLOW UP; GENE INTERACTION; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC SUSCEPTIBILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INBORN ERROR OF METABOLISM; LOW FAT DIET; MALE; MEDICAL EXAMINATION; MOTOR PERFORMANCE; MUSCLE WEAKNESS; NERVE CELL DIFFERENTIATION; NEUROPSYCHOLOGICAL TEST; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; SPEECH DISORDER;

ACYL-COA DEHYDROGENASE; ADAPTATION, PSYCHOLOGICAL; AMINO ACID METABOLISM, INBORN ERRORS; BOSTON; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; NEUROLOGIC EXAMINATION;

EID: 51649085510     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.06.002     Document Type: Article

References (45)

1. Mc Kusick V.A. Short-chain acyl-CoA dehydrogenase (SCAD). Online Mendelian Inheritance in Man (1986)
2. Amendt B.A., Greene C., Sweetman L., Cloherty J., Shih V., Moon A., Teel L., and Rhead W.J. Short-chain acyl-CoA dehydrogenase deficiency. J. Clin. Invest. 79 (1987) 1303-1309
3. Zytkovicz T.H., Fitzgerald E.F., Marsden D., Larson C.A., Shih V.E., Johnson D.M., Strauss A.W., Comeau A.M., Eaton R.B., and Grady G.F. 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. 47 11 (2001) 1945-1955
4. Chace D.H., Kalas T.A., and Naylor E.W. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu. Rev. Genomics Hum. Genet. 3 (2002) 17-45
5. Baerlocher K.E., Steinman B., Aguzzi A., Krahenbuhl S., Roe C.R., and Vianey-Saban C. Short-chain acyl-CoA dehydrogenase deficiency in a 16-year old girl with severe muscle wasting and scoliosis. J. Inherit. Metab. Dis. 20 (1997) 427-431
6. Gregersen N., Winter V.S., Corydon M.J., Corydon T.J., Rinaldo P., Ribes A., Martinez G., Bennett M.J., Vianey-Saban C., Bhala A., Hale D.E., Lehnert W., Kmoch S., Roig M., Riudor E., Eiberg H., Andresen B.S., Bross P., Bolund L.A., and Kølvraa S. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria. Hum. Mol. Genet. 7 (1998) 619-627
7. Corydon M.J., Vockley J., Rinaldo P., Rhead W.J., Kjeldsen M., Winter V., Riggs C., Babovic-Vuksanovic D., Smeitink J., De Jong J., Levy H., Sewell A.C., Roe C., Matern D., Dasouki M., and Gregersen N. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr. Res. 49 (2001) 18-23
8. Koeberl D.D., Young S.P., Gregersen N.S., Vockley J., Smith W.E., Benjamain D.K., An Y., Weavil S.D., Chaing S.H., Bali D., McDonald M.T., Kishnani P.S., Chen Y.T., and Millington D.S. Rare disorders of metabolism with elevated butyryl and isobutyryl carnitine detected by tandem mass spectroscopy newborn screening. Pediatr. Res. 54 2 (2003) 1-5
9. Turpin B., and Tobias J.D. Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency. Paediatr. Anaesth. 157 (2005) 771-777
10. van Maldegem B.T., Duran M., Wanders R.J.A., Niezen-Koning K.E., Hogeveen M., Ijlst L., Waterham H.R., and Wijburg F.A. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. JAMA 30 (2006) 943-952
11. Mikati M.A., Chaaban H.R., Karam P.E., and Krishnamoorthy K.S. Brain malformation and infantile spasms in a SCAD deficiency patient. Pediatr. Neurol. 36 (2007) 8-50
12. Kurian M.A., Harley L., Zolkipli Z., Little M.A., Costigan D., Naughten E.R., Olpin S., Muntoni F., and King M.D. Short-chain acyl-CoA dehydrogenase deficiency associated with early onset severe axonal neuropathy. Neuropediatrics 35 (2004) 312-316
13. Coates P.M., Hale D.E., Finnocchiaro G., Tanaka K., and Winter S.C. Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal and muscle weakness. J. Clin. Invest. 81 (1988) 171-174
14. Bhala A., Willi S.M., Rinaldo P., Bennett M.J., Schmidt-Sommerfeld E., and Hale D.E. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J. Pediatr. 126 (1995) 910-915
15. Dawson B.D., Waber L., et al. Transient organic aciduria and persistent lacticacidemia in a patient with short-chain acyl-coenzyme A dehydrogenase deficiency. J. Pediatr. 126 (1995) 69-71
16. Bok L.A., Vreken P., et al. Short-chain acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Pediatrics 112 (2003) 1152-1155
17. Tein I., Elpeleg O., Ben-Zeev B., Korman S.H., Lossos A., Lev D., Lerman-Sagie T., Vockley G., Berry G.T., Lamhownah A.M., Matern D., Roe C.R., and Gregersen N. Short chain acyl-CoA dehydrogenase gene mutation (c.319 C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol. Genet. Metab. (2007) 179-189
18. Gregersen N., Andresen B.S., et al. Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations. Eur. J. Pediatr. 159 Suppl. 3 (2000) S213-S218
19. Marsden D., Larson C., and Levy H.L. Newborn screening for metabolic disorders. J. Pediatr. 148 (2006) 577-584
20. Jethva R.N., and Ficcicioglu C. Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency detected by newborn screening. Abstracts/Mol. Genet. Metab. 93 (2008) 252 (Abstract #47)
21. Ribes A., Lozano M.J., Rodés G.N., and Vianey-Saban C. Report of a family with short chain acyl-CoA dehydrogenase (SCAD) deficiency. J. Inherit. Metab. Dis. 25 Suppl. 1 (2002) 64
22. Waisbren S. Newborn screening for metabolic disorders. JAMA 296 (2006) 993-995
23. Anderson P.J., Fitch W.L., and Halpern B. Rapid and simplified extraction procedure for gas chromatographic-mass spectrometric profiling of urinary organic acids. J. Chromatogr. 146 (1978) 481-484
24. D. Matern, Acylcarnitine analysis, in: N. Blau, M. Duran, K.M. Gibson (Eds.), Laboratory guide to the methods in biochemical genetics, Springer-Verlag, in press.
25. Waisbren S.E., Albers S., Amato S., Ampola M., Brewster T.G., Demmer L., Eaton R.B., Greenstein R., Korson M., Larson C., Marsden D., Msall M., Naylor E.W., Pueschel S., Seashore M., Shih V.E., and Levy H.L. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA 290 (2003) 2564-2571
26. N. Bayley, Bayley Scales of Infant Development, second ed., The Psychological Corporation, San Antonio, 1993.
27. Thorndike R.L., Hagen E.P., and Sattler J. The Stanford-Binet Intelligence Scale. fourth ed. (1986), Riverside Publishing, Illinois
28. Sparrow S.S., Balla D.A., and Cicchetti D.V. Vineland Adaptive Behavior Scales. second ed. (1984), Springer, Berlin
29. Corydon M.J., Andresen B.S., Bross P., Kjeldsen M., Andreasen P.H., Eiberg H., Kølvraa S., and Gregersen N. Structural organization of the human short-chain acyl-CoA dehydrogenase gene. Mammalian Genome 8 (1997) 922-926
30. van Maldegem B.T., Waterham H.R., Duran M., van der Vlies M., van Woerden C.S., Bobu L.L., Wanders R.J., and Wijburg F.A. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. J. Inherit. Metab. Dis. 28 (2005) 557-562
31. Nagan N., Kruckeberg K.E., Tauscher A.L., Bailey K.S., Rinaldo P., and Matern D. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol. Genet. Metab. 78 (2003) 239-246
32. Corydon M.J., Gregersen N., Lehnert W., Ribes A., Rinaldo P., Kmoch S., Christensen E., Kristensen T.J., Andresen B.S., Bross P., Winter V., Martinez G., Neve S., Jensen T.G., Bolund L., and Kølvraa S. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr. Res. 39 (1996) 1059-1066
33. Wood P.A., Amendt B.A., Rhead W.J., Millington D.S., Inove F., and Armstrong D. Short-chain acyl-coenzyme A dehydrogenase deficiency in mice. Pediatr. Res. 25 (1989) 38-43
34. Kragh P.M., Pedersen C.B., Schmidt S.P., Winter V.S., Vajta G., Gregersen N., Bolund L., and Corydon T.J. Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice. Mol. Genet. Metab. 91 (2007) 128-137
35. Fearing M., and Marsden D. Expanded newborn screening. Pediatr. Ann. 32 (2003) 509-515
36. Danel I., Berg C., Johnson C.H., and Atrash H. Magnitude of maternal morbidity during labor and delivery: United States 1993-1997. Am. J. Public Health (2003) 631-634
37. Mihu D., Costin N., Mihu C., Seicean A., and Ciortea R. HELLP syndrome-a multisystemic disorder. J. Gastrointestin. Liver Dis. (2007) 419-424
38. Matern D., Hart P., Murtha A.P., Vockley J., Gregersen N., Millilngton D.S., and Treem Wr. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency. J. Pediatr. 138 (2001) 585-588
39. Strauss A.W., Bennett M.J., Rinaldo P., Sims H.F., O'Brien L.K., Zhao Y., Gibson B., and Ibdah J. Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. Semin. Perinatol. 23 (1999) 100-112
40. Browning M.F., Levy H.L., Wilkins-Haug L.E., Larson C., and Shih V.E. Fetal fatty acid oxidation defects and maternal liver disease in pregnancy. Obstet. Gynecol. 107 (2006) 115-120
41. Holub M., Bodamer O.A., Item C., Mühl A., Pollak A., and Stöckler-Ipsiroglu S. Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP syndrome). Acta Paediatr. 94 (2005) 48-52
42. Levy H.L., Shih V.E., and Madigan P.M. Routine newborn screening for histidinemia. Clinical and biochemical results. New Engl. J. Med. 291 (1974) 1214-1219
43. Wilcken B., Smith A., and Brown D.A. Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected by screening one millon babies. J. Pediatr. 97 (1980) 492-497
44. Scriver C.R., Mahon B., Levy H.L., Clow C.L., Reade T.M., Kronick J., Lemieux B., and Laberge C. The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am. J. Hum. Genet. 40 (1987) 401-412
45. Sattler J.M. Assessment of Children: Cognitive Applications. fourth ed. (2001), Jerome M. Sattler, Publishers, Inc., La Mesa, CA