| Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening. | |
| | |
MedLine Citation:
|
PMID: 12872837 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
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 |
Related Documents
:
|
3618187 - The normative basis for click and frequency-specific bera in high-risk infants. 11376367 - The pattern of hearing impairment among schoolboys in an institute for deaf subjects. 3055037 - Normal instability of the hip in the neonate: us standards. 10462457 - 2.5-month-old infants' reasoning about when objects should and should not be occluded. 8856577 - Zinc content and distribution in the newborn liver. 3950827 - Phototherapy for neonatal jaundice: clinical equivalence of fluorescent green and "spec... |
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 |
Affiliation:
|
Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA. koebe001@mc.duke.edu |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Acids
/
urine Carbon-Carbon Ligases / deficiency*, genetics* Carnitine / analogs & derivatives*, urine Female Genetic Testing / methods* Humans Infant, Newborn Lymphocytes / enzymology Male Mass Spectrometry Metabolism, Inborn Errors / epidemiology, genetics* Neonatal Screening North Carolina / epidemiology Pilot Projects |
| Grant Support | |
ID/Acronym/Agency:
|
1 K23 RR16060-01/RR/NCRR NIH HHS |
| Chemical | |
Reg. No./Substance:
|
0/Acids; 0/acylcarnitine; 541-15-1/Carnitine; EC 6.4.-/Carbon-Carbon Ligases; EC 6.4.1.4/methylcrotonoyl-CoA carboxylase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs...
Next Document: Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-...