Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the Hmong Population by Newborn Screening Using Tandem Mass Spectrometry

Matern, Dietrich; He, Miao; Berry, Susan A.; Rinaldo, Piero; Whitley, Chester B.; Madsen, Pia Pinholt; Calcar, Sandra C. Van; Lussky, Richard C.; Andresen, Brage Storstein; Wolff, Jon A.; Vockley, Jerry

doi:10.1542/peds.112.1.74

Cited by 64 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%

“…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.…”

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confidence: 90%

“…1). Since the reports of these two initial families, the only other description of patients with this disorder has been in the Hmong communities in Minnesota and Wisconsin (3 ). In these cases, however, the disorder was identified not by urine organic acid analysis but by detection of increased blood-spot C5 carnitine within the framework of a universal newborn-screening program.…”

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confidence: 99%

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2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

et al. 2005

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Background: Isolated excretion of 2-methylbutyrylglycine (2-MBG) is the hallmark of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD), a recently identified defect in the proximal pathway of L-isoleucine oxidation. SBCADD might be underdiagnosed because detection and recognition of urine acylglycines is problematic. Excretion of 2-ethylhydracrylic acid (2-EHA), an intermediate formed in the normally minor R-pathway of L-isoleucine oxidation, has not previously been described in SBCADD. Methods: Samples from four patients with 2-MBG excretion were analyzed by gas chromatography-mass spectrometry for urine organic acids, quantification of 2-MBG, and chiral determination of 2-methylbutyric acid. Blood-spot acylcarnitines were measured by electrospray-tandem mass spectrometry. Mutations in the ACADSB gene encoding SBCAD were identified by direct sequencing. Results: SBCADD was confirmed in each patient by demonstration of different ACADSB gene mutations. In

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confidence: 99%

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2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

et al. 2005

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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%

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Feuchtbaum

Carter

Dowray

et al. 2012

Genetics in Medicine

116

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ORIGINAL RESEARCH ARTICLEPurpose: The purpose of this study was to describe the birth prevalence of genetic disorders among different racial/ethnic groups through population-based newborn screening data. methods: Between 7 July 2005 and 6 July 2010 newborns in California were screened for selected metabolic, endocrine, hemoglobin, and cystic fibrosis disorders using a blood sample collected via heel stick. The race and ethnicity of each newborn was self-reported by the mother at the time of specimen collection.Results: Of 2,282,138 newborns screened, the overall disorder detection rate was 1 in 500 births. The disorder with the highest prevalence among all groups was primary congenital hypothyroidism (1 in 1,706 births). Birth prevalence for specific disorders varied widely among different racial/ethnic groups. conclusion:The California newborn screening data offer a unique opportunity to explore the birth prevalence of many genetic dis orders across a wide spectrum of racial/ethnicity classifications. The data demonstrate that racial/ethnic subgroups of the California newborn population have very different patterns of heritable disease expression. Determining the birth prevalence of these disorders in California is a first step to understanding the short-and long-term medical and treatment needs faced by affected communities, especially those groups that are impacted by more severe disorders. 2012:14(11):937-945 Genet Med

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“…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%

Clinical Diagnosis and Treatment of 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency in One Infant: A Case Report

Y¹,

Wang²,

Y³

et al. 2017

Med Rep Case Stud

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Objective: We reviewed the clinical manifestations and examination results of one infant with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (MHBDD), intending to enhance the understanding, diagnosis and treatment of MHBD. Method:The clinical manifestations and results of laboratory tests, tandem mass spectrometry of the blood sample, gas chromatography-mass spectrometry of the urine sample, chest X-ray, color Doppler examination, brain MRI and EEG as well as the treatment of this case were analyzed retrospectively.Result: This infant, aged 3 years old, mainly presented the symptoms of diarrhea and vomiting initially, and later lethargy, disturbance of consciousness, dyspnea and incorrigible metabolic acidosis. Brain MRI indicated mild ventriculomegaly and widening of sulci bilaterally. Borderline EEG was observed, with several sharp wave discharges in the frontal and central regions of the brain. Tandem mass spectrometry of the blood sample indicated increased levels of aspartic acid and other amino acids; gas chromatography of the urine sample indicated an obvious increase of 2-methyl-3-hydroxybutyric acid, but the levels of 3-methylcrotonyl-glycine or 2-methyl-acetoacetic acid were basically normally. Gene detection revealed p.R130C mutation in exon 4 of the HADH2 gene. Conclusion:As a rare disease, MHBDD may be suspected for infants presenting with incorrigible metabolic acidosis and hyperammonemia or neurological symptoms such as lethargy and disturbance of consciousness for unknown reasons. Examination techniques including tandem mass spectrometry, gas chromatography-mass spectrometry of the blood and urine samples and gene detections can be used for early diagnosis and treatment.

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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.

Cited by 64 publications

References 9 publications

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

Birth prevalence of disorders detectable through newborn screening by race/ethnicity

Clinical Diagnosis and Treatment of 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency in One Infant: A Case Report

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