Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.


:Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the use of tandem mass spectrometry, infants can now be identified and treated before a life threatening metabolic decompensation occurs. Newborn screening has also been shown to detect previously undiagnosed maternal inborn errors of metabolism. We have now diagnosed two women with MCADD following the identification of low free carnitine in their newborns. While one of the women reported prior symptoms of fasting intolerance, neither had a history of metabolic decompensation or other symptoms consistent with a fatty acid oxidation disorder. These cases illustrate the importance of including urine organic acid analysis and an acylcarnitine profile as part of the confirmatory testing algorithm for mothers when low free carnitine is identified in their infants.


Mol Genet Metab


Leydiker KB,Neidich JA,Lorey F,Barr EM,Puckett RL,Lobo RM,Abdenur JE




Has Abstract


2011-05-01 00:00:00














  • A spectrum of molecular variation in a cohort of Italian families with trimethylaminuria: identification of three novel mutations of the FM03 gene.

    abstract::Fish-odor syndrome or trimethylaminuria, is a rare inborn error of metabolism inherited in an autosomal recessive fashion, involving the dysfunction of hepatic enzyme flavin-containing monooxygenase 3 (FMO3) that converts fishy-smelling trimethylamine (TMA) into odorless trimethylamine-N-oxide (TMAO). This confers, to...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Teresa E,Lonardo F,Fiumara A,Lombardi C,Russo P,Zuppi C,Scarano G,Musumeci S,Gianfrancesco F

    更新日期:2006-06-01 00:00:00

  • Characterization of phytanic acid omega-hydroxylation in human liver microsomes.

    abstract::Phytanic acid is a 3-methyl branched-chain fatty acid which originates from dietary sources. Since the 3-methyl group blocks regular beta-oxidation, it is broken down by peroxisomal alpha-oxidation. Adult Refsum disease patients accumulate phytanic acid as a result of an impairment in peroxisomal alpha-oxidation, caus...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Komen JC,Duran M,Wanders RJ

    更新日期:2005-07-01 00:00:00

  • Bacterial species identification after DNA amplification with a universal primer pair.

    abstract::The diagnosis of bacterial infections can be difficult and time consuming. Rapid and reliable molecular triage of potentially infected patients, particularly the young and the elderly, would prevent unnecessary hospitalizations, reduce associated medical costs, and improve the quality of care. Polymerase chain reactio...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: McCabe KM,Zhang YH,Huang BL,Wagar EA,McCabe ER

    更新日期:1999-03-01 00:00:00

  • Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.

    abstract::Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC). A molecular study of this gene was carried out in 11 Argentinean patients from 8 unrelated families. Four missense (p.Gln54Pro, p.Arg83Cys, p.Thr16Arg, and p.Tyr209Cys) and one deletion (c.79delC) mut...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Angaroni CJ,de Kremer RD,Argaraña CE,Paschini-Capra AE,Giner-Ayala AN,Pezza RJ,Pan CJ,Chou JY

    更新日期:2004-11-01 00:00:00

  • Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

    abstract::2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency, also known as beta-ketothiolase deficiency, is an inborn error of ketone body utilization and isoleucine catabolism. It is caused by mutations in the ACAT1 gene and may present with metabolic ketoacidosis. In order to obtain a more comprehensive view on this di...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Grünert SC,Schmitt RN,Schlatter SM,Gemperle-Britschgi C,Balcı MC,Berg V,Çoker M,Das AM,Demirkol M,Derks TGJ,Gökçay G,Uçar SK,Konstantopoulou V,Christoph Korenke G,Lotz-Havla AS,Schlune A,Staufner C,Tran C,Visser G,S

    更新日期:2017-09-01 00:00:00

  • Improved amino acid, bioenergetic metabolite and neurotransmitter profiles following human amnion epithelial cell transplant in intermediate maple syrup urine disease mice.

    abstract::Orthotopic liver transplant (OLT) significantly improves patient outcomes in maple syrup urine disease (MSUD; OMIM: 248600), yet organ shortages point to the need for alternative therapies. Hepatocyte transplantation has shown both clinical and preclinical efficacy as an intervention for metabolic liver diseases, yet ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Skvorak KJ,Dorko K,Marongiu F,Tahan V,Hansel MC,Gramignoli R,Arning E,Bottiglieri T,Gibson KM,Strom SC

    更新日期:2013-06-01 00:00:00

  • Eye development genes and known syndromes.

    abstract::Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33-95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is importan...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Slavotinek AM

    更新日期:2011-12-01 00:00:00

  • Low plasma total cholesterol in patients with Huntington's disease and first-degree relatives.

    abstract::Recent studies indicate altered cholesterol homeostasis in Huntington's disease (HD) after it was found that cultured human and mice cells expressing mutant huntingtin show reduced mRNA of cholesterol biosynthetic enzymes. Plasma total cholesterol (TC) levels have been connected to degenerative disorders, but data for...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Markianos M,Panas M,Kalfakis N,Vassilopoulos D

    更新日期:2008-03-01 00:00:00

  • Carnitine transport by organic cation transporters and systemic carnitine deficiency.

    abstract::The intracellular homeostasis is controlled by different membrane transporters. Organic cation transporters function primarily in the elimination of cationic drugs, endogenous amines, and other xenobiotics in tissues such as the kidney, intestine, and liver. Among these molecules, carnitine is an endogenous amine whic...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Lahjouji K,Mitchell GA,Qureshi IA

    更新日期:2001-08-01 00:00:00

  • Activity of daily living for Morquio A syndrome.

    abstract::The aim of this study was to evaluate the activity of daily living (ADL) and surgical interventions in patients with mucopolysaccharidosis IVA (MPS IVA). The factor(s) that affect ADL are age, clinical phenotypes, surgical interventions, therapeutic effect, and body mass index. The ADL questionnaire comprises three do...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Yasuda E,Suzuki Y,Shimada T,Sawamoto K,Mackenzie WG,Theroux MC,Pizarro C,Xie L,Miller F,Rahman T,Kecskemethy HH,Nagao K,Morlet T,Shaffer TH,Chinen Y,Yabe H,Tanaka A,Shintaku H,Orii KE,Orii KO,Mason RW,Montaño AM

    更新日期:2016-06-01 00:00:00

  • C-fos mediates cocaine inhibition of NGF-induced PC12 cell differentiation.

    abstract::In utero cocaine exposure can affect CNS development. Previous studies showed that cocaine inhibits neuronal differentiation in a dose-dependent fashion, in nerve growth factor (NGF)-stimulated PC12 cells, without affecting cell viability. NGF activates intracellular signaling proteins, specific immediate-early genes ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Zachor DA,Moore JF,Jin J,Theibert AB,Percy AK

    更新日期:1998-05-01 00:00:00

  • Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosis.

    abstract::Therapeutic chaperone effect of a valienamine derivative N-octyl 4-epi-β-valienamine (NOEV) was studied in G(M1)-gangliosidosis model mice. Phamacokinetic analysis revealed rapid intestinal absorption and renal excretion after oral administration. Intracellular accumulation was not observed after continuous treatment....

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Suzuki Y,Ichinomiya S,Kurosawa M,Matsuda J,Ogawa S,Iida M,Kubo T,Tabe M,Itoh M,Higaki K,Nanba E,Ohno K

    更新日期:2012-05-01 00:00:00

  • Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model.

    abstract::In humans, deficiency of galactose-1-phosphate uridyltransferase (GALT) can lead a metabolic disorder Classic Galactosemia. Although the biochemical abnormalities associated with this disease have been described in detail, few attempts have been made to characterize the pathogenic mechanisms of this disorder at the mo...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Slepak T,Tang M,Addo F,Lai K

    更新日期:2005-11-01 00:00:00

  • mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency.

    abstract::Decreased mitochondrial thymidine kinase (TK2) activity is associated with mitochondrial DNA (mtDNA) depletion and respiratory chain dysfunction and is manifested by isolated, fatal skeletal myopathy. Other tissues such as liver, brain, heart, and skin remain unaffected throughout the patients' life. In order to eluci...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Saada A,Shaag A,Elpeleg O

    更新日期:2003-05-01 00:00:00

  • Stop codon read-through of a methylmalonic aciduria mutation.

    abstract::A stop codon defect in methylmalonyl-CoA mutase (resulting in a truncated unstable protein) accounts for up to 14% of mutations identified as causes of Methylmalonic aciduria. There are currently limited treatment regimes for patients with this inherited condition. We aimed to investigate the use of stop codon read-th...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Buck NE,Wood L,Hu R,Peters HL

    更新日期:2009-08-01 00:00:00

  • A rare case of sterol-C4-methyl oxidase deficiency in a young Italian male: Biochemical and molecular characterization.

    abstract::Inborn defects of cholesterol biosynthesis are metabolic disorders presenting with multi-organ and tissue anomalies. An autosomal recessive defect involving the demethylating enzyme C4-methyl sterol (SC4MOL) has been reported in only 4 patients so far. In infancy, all patients were affected by microcephaly, bilateral ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Frisso G,Gelzo M,Procopio E,Sica C,Lenza MP,Dello Russo A,Donati MA,Salvatore F,Corso G

    更新日期:2017-08-01 00:00:00

  • Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency.

    abstract:BACKGROUND:Urea cycle disorders are caused by dysfunction in any of the six enzymes and two transport proteins involved in urea biosynthesis. Our study focuses on ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results in a dysfunctional mitochondrial enzyme, which prevents the synthesis of citr...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Sprouse C,King J,Helman G,Pacheco-Colón I,Shattuck K,Breeden A,Seltzer R,VanMeter JW,Gropman AL

    更新日期:2014-09-01 00:00:00

  • Investigation of folate pathway gene polymorphisms and the incidence of neural tube defects in a Texas hispanic population.

    abstract::Neural tube defects (NTDs) are multifactorial in their etiology, having both genetic and environmental factors contributing to their development. Recent evidence demonstrates that periconceptional supplementation of the maternal diet with a multivitamin containing folic acid significantly reduces the occurrence and re...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Barber R,Shalat S,Hendricks K,Joggerst B,Larsen R,Suarez L,Finnell R

    更新日期:2000-05-01 00:00:00

  • Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth.

    abstract:BACKGROUND:Pyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency is the most common form of BH4 deficiency resulting in hyperphenylalaninemia. It can have variable clinical severity and there is limited information on the clinical presentation, natural history and effectiveness of newborn screening for this condition. ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Manzoni F,Salvatici E,Burlina A,Andrews A,Pasquali M,Longo N

    更新日期:2020-12-01 00:00:00

  • Next generation sequencing in research and diagnostics of ocular birth defects.

    abstract::Sequence capture enrichment (SCE) strategies and massively parallel next generation sequencing (NGS) are expected to increase the rate of gene discovery for genetically heterogeneous hereditary diseases, but at present, there are very few examples of successful application of these technologic advances in translationa...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Raca G,Jackson C,Warman B,Bair T,Schimmenti LA

    更新日期:2010-06-01 00:00:00

  • Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.

    abstract::Neutral lipid storage disease with myopathy (NLSD-M) is a rare autosomal recessive disorder characterised by an abnormal accumulation of triacylglycerol into cytoplasmic lipid droplets (LDs). NLSD-M patients are mainly affected by progressive myopathy, cardiomyopathy and hepatomegaly. Mutations in the PNPLA2 gene caus...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Missaglia S,Tasca E,Angelini C,Moro L,Tavian D

    更新日期:2015-06-01 00:00:00

  • CYP gene polymorphisms and early menarche.

    abstract::Early age at menarche is a risk factor for breast cancer. A previous study reported a significant positive association between the CYP3A4*1B variant allele and early puberty. We investigated whether polymorphisms of the CYP3A4, CYP17, CYP1B1, and CYP1A2 genes predict the age at onset of menarche. Five hundred eighty-t...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Lai J,Vesprini D,Chu W,Jernström H,Narod SA

    更新日期:2001-12-01 00:00:00

  • Epstein-Barr virus-infected marmoset cells transfected with c-myc do not form lymphomas in mice with severe combined immunodeficiency.

    abstract::Epstein-Barr virus (EBV) has been associated with several malignant processes in man, most notably Burkitt lymphoma in previously healthy individuals and lesions resembling large cell non-Hodgkin lymphomas in organ transplant recipients. Mice with the severe combined immunodeficiency phenotype (SCID mice) are exquisit...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Salimi B,O'Gorman MR,Variakojis D,Bendet M,Newman M,Poupko E,Katz BZ

    更新日期:1998-07-01 00:00:00

  • Plasma total homocysteine concentrations in adults with growth hormone (GH) deficiency: effects of GH replacement.

    abstract::Growth hormone (GH) deficiency is associated with increased cardiovascular morbidity and mortality. GH treatment improves the profile of many cardiovascular risk markers in individuals with GH deficiency (GHD). The aim of the present was to assess whether GH replacement may decrease plasma total homocysteine, an indep...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Lewandowski KC,Murray RD,Drzewoski J,O'Callaghan CJ,Czupryniak L,Hillhouse EW,Shalet SM,Randeva HS

    更新日期:2003-11-01 00:00:00

  • Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.

    abstract::The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Acarbose, a highly selective alpha-glucosidase inhibitor, to elimi...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Kallwass H,Carr C,Gerrein J,Titlow M,Pomponio R,Bali D,Dai J,Kishnani P,Skrinar A,Corzo D,Keutzer J

    更新日期:2007-04-01 00:00:00

  • Evaluation of antihypertensive drugs in combination with enzyme replacement therapy in mice with Pompe disease.

    abstract::Pompe disease is caused by the deficiency of lysosomal acid α-glucosidase (GAA) leading to progressive myopathy. Enzyme replacement therapy (ERT) with recombinant human (rh) GAA has limitations, including inefficient uptake of rhGAA in skeletal muscle linked to low cation-independent mannose-6-phosphate receptor (CI-M...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Han SO,Haynes AC,Li S,Abraham DM,Kishnani PS,Steet R,Koeberl DD

    更新日期:2020-02-01 00:00:00

  • Hypovitaminosis D in glycogen storage disease type I.

    abstract::Glycogen storage disease type I (GSD I) is caused by inherited defects of the glucose 6-phosphatase complex, resulting in fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Sixteen out of 26 (61.5%) GSD I patients in our study had suboptimal levels (<30 ng/ml) of 25-hydroxyvitamin-D (25(OH)D) des...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Banugaria SG,Austin SL,Boney A,Weber TJ,Kishnani PS

    更新日期:2010-04-01 00:00:00

  • Aortic distensibility in alkaptonuria.

    abstract:INTRODUCTION:Alkaptonuria (AKU) is a rare inherited disorder of tyrosine metabolism resulting in an accumulation of homogentisic acid oxidation products in the joints and cardiovascular system. Aortic distensibility may be a non-invasive indicator of cardiovascular complications. Descending thoracic aortic distensibili...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Thimmapuram R,Bandettini WP,Shanbhag SM,Yu JH,O'Brien KJ,Gahl WA,Introne WJ,Chen MY

    更新日期:2020-08-01 00:00:00

  • Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.

    abstract:BACKGROUND:The etiology of liver disease remains elusive in some adults presenting with severe hepatic dysfunction. METHODS AND RESULTS:Here we describe a woman of Pakistani descent who had elevated aminotransferases at age 23. She developed muscle weakness in her mid-20s, and was diagnosed with hepatocellular carcino...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Stender S,Chakrabarti RS,Xing C,Gotway G,Cohen JC,Hobbs HH

    更新日期:2015-12-01 00:00:00

  • Valproate induces in vitro accumulation of long-chain fatty acylcarnitines.

    abstract::To elucidate the interference mechanisms of valproate (VPA) with mitochondrial fatty acid beta-oxidation (FAO), the profile of acylcarnitine formation was studied in vitro. Human fibroblasts were incubated with 0.2 mmol/L [U-(13)C]palmitate, 0.4 mmol/L l-carnitine, +/- VPA (2 mmol/L) (96 h at 37 degrees C). Acylcarnit...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Silva MF,Jakobs C,Duran M,de Almeida IT,Wanders RJ

    更新日期:2001-08-01 00:00:00