2003
DOI: 10.1542/peds.112.1.74
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Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the Hmong Population by Newborn Screening Using Tandem Mass Spectrometry

Abstract: These cases suggest that SBCAD deficiency is another inborn error of metabolism detectable by newborn screening using tandem mass spectrometry. The continued efficacy of long-term dietary therapy instituted presymptomatically remains to be established.

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Cited by 65 publications
(73 citation statements)
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“…Ethylmalonic encephalopathy is a rare infantile metabolic disorder with a distinctive clinical presentation characterized by hypotonia, developmental delay and regression, orthostatic acrocyanosis, relapsing petechiae, chronic diarrhea, and Clinical Chemistry 51, No. 3,2005 progressive pyramidal and extrapyramidal signs (31 ). As in SBCADD, patients with ethylmalonic encephalopathy have increased urinary excretion of 2-EHA and 2-MBG.…”
Section: Discussionmentioning
confidence: 99%
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“…Ethylmalonic encephalopathy is a rare infantile metabolic disorder with a distinctive clinical presentation characterized by hypotonia, developmental delay and regression, orthostatic acrocyanosis, relapsing petechiae, chronic diarrhea, and Clinical Chemistry 51, No. 3,2005 progressive pyramidal and extrapyramidal signs (31 ). As in SBCADD, patients with ethylmalonic encephalopathy have increased urinary excretion of 2-EHA and 2-MBG.…”
Section: Discussionmentioning
confidence: 99%
“…Clinical Chemistry 51, No. 3,2005 In this report we show that increased excretion of 2-ethylhydracrylic acid (2-EHA) is a prominent and easily recognized abnormality on analysis of organic acids in urine from patients with SBCADD. Awareness of 2-ethylhydracrylic aciduria as an indicator of SBCADD may lead to increasing diagnosis of this disorder and further definition of its phenotype.…”
mentioning
confidence: 90%
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“…Only limited race-specific disorder profiles have been reported elsewhere. Previous research has examined the relationship between ethnicity and a single genetic disorder, including the prevalence of a mutation or disorder within a specific ethnic group, [4][5][6][7][8] within several ethnic groups in a region, [9][10][11][12][13][14][15][16][17] or by geographic region only. 18,19 No studies have published the disorder prevalence rates by specific racial/ethnicity groups in a large US population.…”
Section: Introductionmentioning
confidence: 99%
“…Low-isoleucine diet is usually adopted for patients with MHBDD along with anti-infective therapies to reduce mitochondrial stress and maintain mitochondrial balance and vitamins and cofactor administration [4,12]. Initially the present case showed the symptoms of lethargy, dyspnea, severe metabolic acidosis, disturbance of consciousness, poor swallowing, inability to hold the neck erect, low muscular strength and tension in the four limbs, which were signs of subsequent brain injury.…”
Section: Discussionmentioning
confidence: 81%