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














  • Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.

    abstract::Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidat...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Méndez M,Rossetti MV,Gómez-Abecia S,Morán-Jiménez MJ,Parera V,Batlle A,Enríquez de Salamanca R

    更新日期:2012-04-01 00:00:00

  • Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP).

    abstract::Alterations in the ferrochelatase gene (FECH) are the basis of the phenotypic expressions in erythropoietic protoporphyria. The phenotype is due to the presence of a mutation in the FECH gene associated in trans to the c.315-48 T > C variant in the intron 3. The latter is able to increase the physiological quota of al...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Brancaleoni V,Granata F,Missineo P,Fustinoni S,Graziadei G,Di Pierro E

    更新日期:2018-08-01 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

  • Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.

    abstract::Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized by variable degrees of oculocutaneous albinism, easy bruisability, and bleeding as a result of deficient platelet dense bodies, and recurrent infections, with neutropenia, impaired chemotaxis and bactericidal activity, and abnormal NK ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Introne W,Boissy RE,Gahl WA

    更新日期:1999-10-01 00:00:00

  • Genetic mutation profile of isovaleric acidemia patients in Taiwan.

    abstract::Isovaleric acidemia (IVA), a rare recessive autosomal disorder, is caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. IVA may present with symptoms during the acute stage of severe metabolic acidosis, ketosis, vomiting, and altered mental status. With the help of newborn screening (NBS) by tandem mass spectromet...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Lin WD,Wang CH,Lee CC,Lai CC,Tsai Y,Tsai FJ

    更新日期:2007-02-01 00:00:00

  • Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.

    abstract::Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis caused by molecular defects in the hydroxymethylbilane synthase (HMBS) gene. In this study, we report two novel missense sequence variations in the HMBS gene, T59I (C176T) and V215M (G643A), in two patients with clinical symptoms...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Schneider-Yin X,Ulbrichova D,Mamet R,Martasek P,Marohnic CC,Goren A,Minder EI,Schoenfeld N

    更新日期:2008-07-01 00:00:00

  • Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses.

    abstract::The cause of neurodegeneration in MPS mouse models is the focus of much debate and what the underlying cause of disease pathology in MPS mice is. The timing of development of pathology and when this can be reversed or impacted is the key to developing suitable therapies in MPS. This study is the first of its kind to c...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Derrick-Roberts A,Kaidonis X,Jackson MR,Liaw WC,Ding X,Ong C,Ranieri E,Sharp P,Fletcher J,Byers S

    更新日期:2020-01-01 00:00:00

  • Toward understanding the neuronal pathogenesis of aspartylglucosaminuria: expression of aspartylglucosaminidase in brain during development.

    abstract::The deficiency of a lysosomal enzyme, aspartylglucosaminidase, results in a lysosomal storage disorder, aspartylglucosaminuria, manifesting as progressive mental retardation. To understand tissue pathogenesis and disease progression we analyzed the developmental expression of the enzyme, especially in brain, which is ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Uusitalo A,Tenhunen K,Heinonen O,Hiltunen JO,Saarma M,Haltia M,Jalanko A,Peltonen L

    更新日期:1999-08-01 00:00:00

  • Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

    abstract::Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure to thrive, seizures and respiratory failure. In this study, we performed a systematic sequence analysis of mitochondrial genes...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Mkaouar-Rebai E,Chamkha I,Kammoun F,Kammoun T,Aloulou H,Hachicha M,Triki C,Fakhfakh F

    更新日期:2009-07-01 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

  • Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

    abstract::Among the phenotypes associated with Gaucher disease, the deficiency of glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism. Sequencing of glucocerebrosidase in 17 such patients revealed 12 different genotypes. Fourteen patients had the common "non-neuronopathic" N370S mutation, i...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Tayebi N,Walker J,Stubblefield B,Orvisky E,LaMarca ME,Wong K,Rosenbaum H,Schiffmann R,Bembi B,Sidransky E

    更新日期:2003-06-01 00:00:00

  • Structure of the PCCA gene and distribution of mutations causing propionic acidemia.

    abstract::Propionyl-CoA carboxylase (PCC, EC is a mitochondrial, biotin-dependent enzyme that functions in the catabolism of branched-chain amino acids, fatty acids with odd-numbered chain lengths, and other metabolites. It catalyzes the ATP-dependent carboxylation of propionyl-CoA to d-methylmalonyl-CoA. PCC is compos...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Campeau E,Desviat LR,Leclerc D,Wu X,Pérez B,Ugarte M,Gravel RA

    更新日期:2001-09-01 00:00:00

  • N-acetylglutamate synthase: structure, function and defects.

    abstract::N-acetylglutamate (NAG) is a unique enzyme cofactor, essential for liver ureagenesis in mammals while it is the first committed substrate for de novo arginine biosynthesis in microorganisms and plants. The enzyme that produces NAG from glutamate and CoA, NAG synthase (NAGS), is allosterically inhibited by arginine in ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Caldovic L,Ah Mew N,Shi D,Morizono H,Yudkoff M,Tuchman M

    更新日期:2010-01-01 00:00:00

  • DAX1 and its network partners: exploring complexity in development.

    abstract::DAX1 encoded by NR0B1, when mutated, is responsible for X-linked adrenal hypoplasia congenita (AHC). AHC is due to failure of the adrenal cortex to develop normally and is fatal if untreated. When duplicated, this gene is associated with an XY sex-reversed phenotype. DAX1 expression is present during development of th...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Clipsham R,McCabe ER

    更新日期:2003-09-01 00:00:00

  • A common variant near the PRL gene is associated with increased adiposity in males.

    abstract::A common variant (rs4712652) adjacent to the prolactin gene was recently associated with obesity using a genome-wide association study. The aim of this study was to replicate the association between rs4712652 and obesity and further examine if rs4712652 is associated with fat percentage and adiponectin levels in a pop...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Nilsson L,Olsson AH,Isomaa B,Groop L,Billig H,Ling C

    更新日期:2011-01-01 00:00:00

  • Evolutionary divergence of thyrotropin receptor structure.

    abstract::The availability of 18 thyrotropin receptor (TSHR) sequences, including two recent entries for primates and seven from fish, have allowed us to investigate diversification of residues or domains during evolution. We used a likelihood ratio test for evolutionary rate shifts [Proc. Natl. Acad. Sci. 98 (2001) 14512] usin...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Knudsen B,Farid NR

    更新日期:2004-04-01 00:00:00

  • Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

    abstract::Recently, BH(4)-responsive phenylalanine hydroxylase (PAH) deficiency was reported in patients with specific mutations in the PAH gene, and it was suggested that BH(4) responsiveness may be determined by the respective genotypes. We now report on three patients with PAH deficiency and the same genotype but different r...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Lindner M,Haas D,Mayatepek E,Zschocke J,Burgard P

    更新日期:2001-05-01 00:00:00

  • Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

    abstract::Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storag...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Ferreira CR,Chen D,Abraham SM,Adams DR,Simon KL,Malicdan MC,Markello TC,Gunay-Aygun M,Gahl WA

    更新日期:2017-03-01 00:00:00

  • Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.

    abstract::We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains was present in 44 participants, with additional epilepsy present in 35 ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Stockler-Ipsiroglu S,van Karnebeek C,Longo N,Korenke GC,Mercimek-Mahmutoglu S,Marquart I,Barshop B,Grolik C,Schlune A,Angle B,Araújo HC,Coskun T,Diogo L,Geraghty M,Haliloglu G,Konstantopoulou V,Leuzzi V,Levtova A,Mack

    更新日期:2014-01-01 00:00:00

  • Apoptosis accompanied by up-regulation of TNF-alpha death pathway genes in the brain of Niemann-Pick type C disease.

    abstract::Niemann-Pick disease type C (NP-C) is an autosomal recessive neurovisceral storage disease with neurodegeneration caused by mutations in either the NPC-1 or NPC-2 gene. The murine ortholog of NPC-1 is mutated in BALB/c npc(nih) and this mutant mouse shows equally conspicuous neurodegeneration and loss of neurons. Howe...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Wu YP,Mizukami H,Matsuda J,Saito Y,Proia RL,Suzuki K

    更新日期:2005-01-01 00:00:00

  • Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease.

    abstract::Glycogen storage disease type I (GSD I) is a metabolic disorder resulting from defects in the glucose-6-phosphatase system. Approximately 75% of adolescent and adult patients develop hepatocellular adenomas, which can lead to considerable morbidity and mortality. The pathogenesis of adenomas is unclear and the risk of...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Di Rocco M,Calevo MG,Taro' M,Melis D,Allegri AE,Parenti G

    更新日期:2008-04-01 00:00:00

  • Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.

    abstract::Carnitine palmitoyltransferase type 2 (CPT2) deficiency, a mitochondrial fatty acid oxidation disorder (MFAOD), is a cause of myopathy in its late clinical presentation. As for other MFAODs, its diagnosis may be evocated when blood acylcarnitine profile is abnormal. However, a lack of abnormalities or specificity in t...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Fontaine M,Kim I,Dessein AF,Mention-Mulliez K,Dobbelaere D,Douillard C,Sole G,Schiff M,Jaussaud R,Espil-Taris C,Boutron A,Wuyts W,Acquaviva C,Vianey-Saban C,Roland D,Joncquel-Chevalier Curt M,Vamecq J

    更新日期:2018-04-01 00:00:00

  • Extended [13C]galactose oxidation studies in patients with galactosemia.

    abstract::Since patients with galactose-1-phosphate uridyltransferase (GALT) deficiency have considerable endogenous galactose formation and only limited urinary excretion of galactose metabolites, there must be mechanisms for disposal of the sugar. Otherwise, a steady-state could not be maintained and there would be continuous...

    journal_title:Molecular genetics and metabolism

    pub_type: 临床试验,杂志文章


    authors: Berry GT,Reynolds RA,Yager CT,Segal S

    更新日期:2004-06-01 00:00:00

  • A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4.

    abstract::Congenital generalized lipodystrophy (CGL), characterized by generalized absence of adipose tissue, has heterogeneous causes. Recently, a novel type of CGL complicated by muscular dystrophy was categorized as CGL4 caused by PTRF-CAVIN deficiency. However, it is unknown whether CGL4 exhibits clinical abnormalities duri...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Dwianingsih EK,Takeshima Y,Itoh K,Yamauchi Y,Awano H,Malueka RG,Nishida A,Ota M,Yagi M,Matsuo M

    更新日期:2010-10-01 00:00:00

  • Successful combined liver/kidney transplantation from a donor with Pompe disease.

    abstract::Pompe disease results from inherited deficiency of the enzyme acid alpha-glucosidase resulting in lysosomal accumulation of glycogen primarily in skeletal muscle. Reported is the first case in which a donor with late onset Pompe disease (LOPD) was successfully used for deceased donor liver and kidney transplantation. ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Halldorson J,Kazi Z,Mekeel K,Kuo A,Hassanein T,Loomba R,Austin S,Valasek MA,Kishnani P,Hemming AW

    更新日期:2015-08-01 00:00:00

  • Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

    abstract:PURPOSE:To present clinical, biochemical and molecular information on six new clinically diagnosed Krabbe disease patients and assess the sensitivity of retrospective galactocerebrosidase measurement in their newborn screening samples. METHODS:Medical records were reviewed. Galactocerebrosidase activity was measured i...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Puckett RL,Orsini JJ,Pastores GM,Wang RY,Chang R,Saavedra-Matiz CA,Torres PA,Zeng B,Caggana M,Lorey F,Abdenur JE

    更新日期:2012-01-01 00:00:00

  • Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

    abstract:BACKGROUND:There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS:A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Aguiar A,Ahring K,Almeida MF,Assoun M,Belanger Quintana A,Bigot S,Bihet G,Blom Malmberg K,Burlina A,Bushueva T,Caris A,Chan H,Clark A,Clark S,Cochrane B,Corthouts K,Dalmau J,Dassy M,De Meyer A,Didycz B,Diels M,D

    更新日期:2015-05-01 00:00:00

  • First characterization of a large deletion of the PDHA 1 gene.

    abstract::Pyruvate dehydrogenase complex (PDC) deficiency is one of the major recognized causes of congenital lactic acidosis. The most common form is due to PDHA 1 gene (Xp22.12) defects. Here, we report the case of a Polynesian girl presenting with delayed neurological development, cortical atrophy, and posterior corpus callo...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Brivet M,Moutard ML,Zater M,Venet L,Chenel C,Mine M,Legrand A

    更新日期:2005-12-01 00:00:00

  • The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

    abstract::The mitochondrial 13513G>A (D393N) mutation in the ND5 subunit of the respiratory chain complex I was initially described in association with MELAS syndrome. Recent observations have linked this mutation to Leigh disease. We screened for the 13513G>A mutation in a cohort of 265 patients with Leigh and Leigh-like disea...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Brautbar A,Wang J,Abdenur JE,Chang RC,Thomas JA,Grebe TA,Lim C,Weng SW,Graham BH,Wong LJ

    更新日期:2008-08-01 00:00:00

  • Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency.

    abstract::The only known Japanese child with biotinidase deficiency was identified by newborn screening in Japan. He has 10.8% of mean normal serum biotinyl-hydrolase activity and trace biotinyl-transferase activity. The mutation results in 16% of normal cross-reacting material in serum with antibody to purified normal biotinid...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Pomponio RJ,Yamaguchi A,Arashima S,Hymes J,Wolf B

    更新日期:1998-06-01 00:00:00