Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening

Molecular Genetics and Metabolism

Volumn 106, Issue 4, 2012, Pages 439-441

  Arnold, Georgianne L ^a   Salazar, Denise ^b   Neidich, Julie A ^c   Suwannarat, Pim ^d   Graham, Brett H ^e   Lichter Konecki, Uta ^f   Bosch, Annet M ^g   Cusmano Ozog, Kristina ^f   Enns, Greg ^h   Wright, Erica L ⁱ   Lanpher, Brendan C ^f   Owen, Natalie N ^j   Lipson, Mark H ^k   Cerone, Roberto ^l   Levy, Paul ^m   Wong, Lee Jun C ^e   Dezsofi, Antal ⁿ  

^a UNIVERSITY OF PITTSBURGH MEDICAL CENTER   (United States)

^b QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^c AMBRY GENETICS   (United States)

^d KAISER PERMANENTE   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f GEORGE WASHINGTON UNIVERSITY   (United States)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

^h STANFORD UNIVERSITY   (United States)

ⁱ UNIVERSITY OF COLORADO HOSPITAL   (United States)

^j MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

^k Kaiser Permanente   (United States)

^l G GASLINI INSTITUTE   (Italy)

^m CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

ⁿ SEMMELWEIS UNIVERSITY   (Hungary)

more..

Author keywords

3 Methylcrotonyl CoA carboxylase deficiency; Newborn screening; Organic acidemia

Indexed keywords

METHYLCROTONOYL COENZYME A CARBOXYLASE;

ARTICLE; AUTISM; CARNITINE DEFICIENCY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DOWN SYNDROME; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; FEMALE; HUMAN; HYPOGLYCEMIA; INBORN ERROR OF METABOLISM; INFANT; KETOACIDOSIS; MALE; MENTAL DEFICIENCY; NEWBORN SCREENING; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCHIZENCEPHALY;

ADOLESCENT; CARBON-CARBON LIGASES; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; UREA CYCLE DISORDERS, INBORN;

EID: 84864328240     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.04.006     Document Type: Article

References (15)

1. Sweetman L., Williams J.A. Branched chain organic acidurias. The Metabolic and Molecular Bases of Inherited Disorders 2001, 2125-2168. McGraw-Hill, NY. eighth ed. C.R. Scriver, A.L. Buadet, W.S. Sly, D. Valle (Eds.).
2. Beemer F.A., Bartlett K., Duran M., Ghneim H.K., Wadman S.K., Bruinvis L., Ketting D. Isolated biotin-resistant 3-methylcrotonyl-CoA-carboxylase deficiency in two sibs. Eur. J. Pediatr. 1982, 138:351-354.
3. Elpeleg O.N., Havkin S., Barash V., Jacobs C., Glick B., Shalev R.S. Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency. J. Pediatr. 1992, 121:407-410.
4. Ihara K., Kuromar R., Inoue Y., Kuhara T., Matsumoto I., Yoshino M., Fukushige J. An asymptomatic infant with isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency detected by newborn screening for maple syrup urine disease. Eur. J. Pediatr. 1997, 156:713-715.
5. Mourmans J., Bakkeren J., de Jong J., Wevers R., van Diggelen O.P., Suormala T., Baumgartner R., Wendel U. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. J. Inherit. Metab. Dis. 1995, 18:643-645.
6. Pearson M.A., Aleck K.A., Heidenriech R.A. Benign clinical presentation of 3-methylcrotonylglycinuria. J. Inherit. Metab. Dis. 1995, 18:640-641.
7. Rutledge S.L., Berry G.T., Stanley C.A., van Hove J.L.K., Millington D. Glycine and l-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J. Inherit. Metab. Dis. 1995, 18:299-305.
8. Roschinger W., Millington D.S., Gage D.A., Huang H.-Z., Iwamoto T., Yanoo S., Packman S., Johnston K., Berry S.A., Sweetman L. 3-Hydroxyisovalerylcarnitine in patient swith deficiency of 3-methylcrotonyl CoA carboxylase. Clin. Chim. Acta 1995, 240:35-51.
9. Koeberl D.D., Millilngton D.S., Smith W.E., Weavil S.D., Muenzer J., McCandless S.E., Kishnani P.S., McDonald M.T., Chaing S., Boney A., Moore E., Frazier D.M. Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. J. Inherit. Metab. Dis. 2003, 26:25-35.
10. Gibson K.M., Bennett M.J., Naylor E.W., Morton D.H. 3-Methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children. J. Pediatr. 1998, 132:519-523.
11. Dantas M.F., Suormala T., Randolf A., Doelho D., Fowler J.B., Valle D., Baumgartner M.R. 3-Methylcrotonyl CoA carboxylase deficiency mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum. Mutat. 2005, 26:164.
12. Niu D.-N., Chien Y.-H., Chiang C.-C., Ho H.-C., Hwu W.-L., Kao S.-M., Chiang S.-H., Kao C.-H., Liu T.-T., Chiang H., Hsiao K.-J. Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan. J. Inherit. Metab. Dis. 2010, 33(Suppl. 2):S295-S305.
13. Cho S., Park H.D., Lee Y.W., Ki C.S., Lee S.Y., Sohn Y., Park S., Kim S., Ji S., Kim S., Choi E., Kim C., Ko A.R., Paik K.H., Lee D., Jin D.K. Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency. Clin. Genet. 2012, 81:96-98.
14. Ficicioglu C., Payan I. 3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening. Pediatrics 2006, 118:2555-2556.
15. D. Matern, P. Rinaldo, Medium-chain acyl-coenzyme A dehydrogenase deficiency. GeneReviews: Genetic Disease Online Reviews at GeneTests-Geneclinics, University of Washington, Seattle, Database Online, accessed May 20, 2012. http://www.ncbi.nlm.nih.gov/books/NBK1424/.