Document Detail

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
MedLine Citation:
PMID:  12872837     Owner:  NLM     Status:  MEDLINE    
Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated 3-hydroxyisovalerylcarnitine (C5OH) levels have been evaluated for evidence of inborn errors of metabolism associated with this metabolite. Ten of these 20 infants had significant concentrations of both 3-hydroxyisovaleric acid and 3-methylcrotonylglycine in their urine, suggestive of 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency. Four of these 10 were infants whose abnormal metabolites were found to be of maternal origin. Of 8 patients with probable 3-MCC deficiency, 7 have been tested and found to have the enzyme deficiency confirmed in lymphoblasts or cultured fibroblasts; one of these 7 infants had only marginally decreased 3-MCC activity in lymphocytes but deficient 3-MCC in fibroblasts. We estimate the incidence of 3-MCC deficiency at 1:64000 live births in North Carolina. We conclude that MS/MS newborn screening will detect additional inborn errors of metabolism, such as 3-MCC deficiency, not traditionally associated with newborn screening. The evaluation of newborns with two abnormally elevated C5OH levels on MS/MS newborn screening should include, at least, urine organic acid analysis by capillary GC-MS and a plasma acylcarnitine profile by MS/MS. Long-term follow-up is needed to determine the outcome of presymptomatically diagnosed patients with 3-MCC deficiency by MS/MS newborn screening.
D D Koeberl; D S Millington; W E Smith; S D Weavil; J Muenzer; S E McCandless; P S Kishnani; M T McDonald; S Chaing; A Boney; E Moore; D M Frazier
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  26     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2003  
Date Detail:
Created Date:  2003-07-22     Completed Date:  2004-02-23     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  25-35     Citation Subset:  IM    
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
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MeSH Terms
Acids / urine
Carbon-Carbon Ligases / deficiency*,  genetics*
Carnitine / analogs & derivatives*,  urine
Genetic Testing / methods*
Infant, Newborn
Lymphocytes / enzymology
Mass Spectrometry
Metabolism, Inborn Errors / epidemiology,  genetics*
Neonatal Screening
North Carolina / epidemiology
Pilot Projects
Grant Support
1 K23 RR16060-01/RR/NCRR NIH HHS
Reg. No./Substance:
0/Acids; 0/acylcarnitine; 541-15-1/Carnitine; EC 6.4.-/Carbon-Carbon Ligases; EC carboxylase

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