Document Detail

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
MedLine Citation:
PMID:  20074989     Owner:  NLM     Status:  MEDLINE    
Carnitine uptake defect (CUD) is an autosomal recessive fatty acid oxidation defect caused by a deficiency of the high-affinity carnitine transporter OCTN2. CUD patients may present with hypoketotic hypoglycemia, hepatic encephalopathy or dilated cardiomyopathy. Tandem mass spectrometry screening of newborns can detect CUD, although transplacental transport of free carnitine from the mother may cause a higher free carnitine level and cause false negatives during newborn screening. From Jan 2001 to July 2009, newborns were screened for low free carnitine levels at the National Taiwan University Hospital screening center. Confirmation tests included dried blood spot free acylcarnitine levels and mutation analyses for both babies and their mothers. Sixteen newborns had confirmation tests for persistent low free carnitine levels; four had CUD, six had mothers with CUD, and six cases were false positives. All babies born to mothers with CUD had transient carnitine deficiency. The six mothers with CUD were put on carnitine supplementation (50-100mg/kg/day). One mother had dilated cardiomyopathy at diagnosis and her cardiac function improved after treatment. Analysis of the SLC22A5 gene revealed that p.S467C was the most common mutation in mothers with CUD, while p.R254X was the most common mutation in newborns and children with CUD. Newborn screening allows for the detection of CUD both in newborns and mothers, with an incidence in newborns of one in 67,000 (95% CI: one in 31,600-512,000) and a prevalence in mothers of one in 33,000 (95% CI: one in 18,700-169,000). Detection of CUD in mothers may prevent them from developing dilated cardiomyopathy.
Ni-Chung Lee; Nelson Leung-Sang Tang; Yin-Hsiu Chien; Chun-An Chen; Sho-Juan Lin; Pao-Chin Chiu; Ai-Chu Huang; Wuh-Liang Hwu
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Publication Detail:
Type:  Journal Article     Date:  2009-12-28
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  100     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2010 May 
Date Detail:
Created Date:  2010-04-12     Completed Date:  2010-07-08     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  46-50     Citation Subset:  IM    
Copyright Information:
(c) 2009 Elsevier Inc. All rights reserved.
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
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MeSH Terms
Cardiomyopathy, Dilated / etiology
Carnitine / blood,  deficiency*,  metabolism
False Negative Reactions
Infant, Newborn
Lipid Metabolism, Inborn Errors / complications,  epidemiology,  genetics
Neonatal Screening / methods
Organic Cation Transport Proteins / deficiency,  genetics*
Taiwan / epidemiology
Tandem Mass Spectrometry
Reg. No./Substance:
0/Organic Cation Transport Proteins; 0/SLC22A5 protein, human; 541-15-1/Carnitine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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