Neonatal screening for defects of the mitochondrial trifunctional protein

Sander, Johannes; Sander, Stefanie; Steuerwald, Ulrike; Janzen, Nils; Peter, Michael; Wanders, Ronald J. A.; Marquardt, Iris; Korenke, Georg Christoph

doi:10.1016/j.ymgme.2005.02.002

Cited by 65 publications

(63 citation statements)

References 20 publications

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“…Similarly, the acylcarnitine profiles in fibroblasts from patients with these disorders were not diagnostic (results not shown). As in our patient, the clinical outcome is generally poor in isolated thiolase and generalized MTP deficiency, as shown in our previous study (22 ).…”

Section: Discussionsupporting

confidence: 87%

“…As we have shown recently in a sample of 1.3 million newborns (22 ), the acylcarnitine profile from dried blood spots does not distinguish among generalized MTP deficiency, isolated LCHAD deficiency, and isolated thiolase deficiency. Similarly, the acylcarnitine profiles in fibroblasts from patients with these disorders were not diagnostic (results not shown).…”

Section: Discussionmentioning

confidence: 65%

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Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene

et al. 2006

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Patient and Results:We report a male newborn who presented with lactic acidosis, pulmonary edema, and cardiomyopathy leading to acute heart failure and death at the age of 6 weeks. Routine newborn screening by tandem mass spectrometry showed increased concentrations of the acylcarnitines tetradecenoylcarnitine, hexadecenoylcarnitine, hydroxypalmitoylcarnitine, and hydroxyoctadecenoylcarnitine, suggesting LCHAD deficiency or complete MTP deficiency. Enzyme investigations revealed very low LCTH (4% of normal) and normal LCHAD activities, whereas molecular analysis

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Section: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 65%

Isolated Mitochondrial Long-Chain Ketoacyl-CoA Thiolase Deficiency Resulting from Mutations in the HADHB Gene

et al. 2006

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“…Although it is acknowledged that LCHADD is a rare but serious life-threatening disease, prevalence of LCHADD has been published for only a few countries, e.g., Sweden 1: 50,000 (Hagenfeldt et al 1995) and Germany 1: 170,000 (Sander et al 2005). The incidence of LCHADD by the combined data of the newborn screening programs of Australia, Germany, and USA is 1:250,000 (Lindner et al 2010).…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia

et al. 2011

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The aim of our study was to evaluate the prevalence of long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the general Estonian population and among patients with symptoms suggestive of fatty acid oxidation (FAO) defects. We collected DNA from a cohort of 1,040 anonymous newborn blood spot samples. We screened these samples for the presence of the common c.1528G>C mutation in the HADHA gene. Based on the clinical suspicion of FAO defects, we screened suspected individuals since 2004 for the common c.1528G>C mutation in the HADHA gene and since 2008 in addition by tandem mass spectrometric analysis of plasma acylcarnitines. Our results showed that the carrier frequency of the c.1528G>C mutation in the Estonian population is high -1:173. During the screening of symptomatic patients, we identified five LCHADD patients in four families. Three patients were retrospectively identified by molecular screening of the HADHA gene.

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“…9 As far as we know, the elevation of blood succinylacetone detected by newborn screening has been described only once prior to this report in two newborns, and was identified on residual spots, after extraction of acylcarnitines and amino acids, by separate runs. 10 Our method allows SA to be extracted simultaneously with acylcarnitines and amino acids. The application of this method, which has proven to be accurate and reliable, offers many advantages including time saving and no additional costs.…”

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confidence: 99%