3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiency.


:A new acylcarnitine was observed in the plasma and urine of a patient with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Analysis by tandem mass spectrometry of the methyl ester and butyl ester and their fragment ion spectra identified it as a 3-hydroxy-C5-acylcarnitine. Fibroblasts from a second patient were incubated with deuterium-labelled leucine. Incorporation of label in the new acylcarnitine identified its origin from leucine, and thus confirmed the structure as 3-hydroxyisovalerylcarnitine. The presence of elevated amounts of this metabolite, plus a small amount of 3-methylcrotonylcarnitine in plasma, was diagnostic for isolated 3-methylcrotonyl-CoA carboxylase deficiency. Other conditions in which a hydroxy-C5-acylcarnitine was present were readily differentiated by the abnormal elevation of other acylcarnitines.


J Inherit Metab Dis


van Hove JL,Rutledge SL,Nada MA,Kahler SG,Millington DS




Has Abstract


1995-01-01 00:00:00












  • A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.

    abstract::3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder that affects ketogenesis and leucine metabolism. The disease is caused by mutations in the gene coding for 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL). To date 26 different mutations have been described. A (betaalpha)(8) TIM barrel...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Mir C,Lopez-Viñas E,Aledo R,Puisac B,Rizzo C,Dionisi-Vici C,Deodato F,Pié J,Gomez-Puertas P,Hegardt FG,Casals N

    更新日期:2006-02-01 00:00:00

  • Therapy through chaperones: sense or antisense? Cystic fibrosis as a model disease.

    abstract::Massive production and accumulation of a single abnormal protein may constitute a major toxic burden for the cell and even compromise the organism's long-term viability. Consequently, adaptation and survival have forced evolution to create 'quality control' mechanisms that detect, monitor, and often degrade such abnor...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Amaral MD

    更新日期:2006-04-01 00:00:00

  • Blood-brain barrier structure and function and the challenges for CNS drug delivery.

    abstract::The neurons of the central nervous system (CNS) require precise control of their bathing microenvironment for optimal function, and an important element in this control is the blood-brain barrier (BBB). The BBB is formed by the endothelial cells lining the brain microvessels, under the inductive influence of neighbour...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Abbott NJ

    更新日期:2013-05-01 00:00:00

  • Fasting, postprandial, and post-methionine-load homocysteinaemia and methylenetetrahydrofolate reductase polymorphism in vascular disease.

    abstract::Hyperhomocysteinaemia is an independent risk factor for cardiovascular disease. The C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) is a common genetic cause of increased homocysteine (HCY) levels. Post-methionine-load HCY concentrations allow identification of certain cases of hyperhomocysteinaemia ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Candito M,Bedoucha P,Gibelin P,Jambou D,de Franchis R,Sadoul JL,Chatel M,Van Obberghen E

    更新日期:1999-06-01 00:00:00

  • Organic acids in urine of patients with congenital lactic acidoses: an aid to differential diagnosis.

    abstract::The differential diagnosis of patients with apparent congenital lactic acidoses poses one of the most intractable problems in the study of patients with disorders of organic acid metabolism. An outline of the factors leading to a lactic acidosis, particularly in infants and young children, together with a brief review...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Chalmers RA

    更新日期:1984-01-01 00:00:00

  • L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.

    abstract::L-2-hydroxyglutaric aciduria (L-2-HGA) is a metabolic disease with an autosomal recessive mode of inheritance. It was first reported in 1980. Patients with this disease have mutations in both alleles of the L2HDGH gene. The clinical presentation of individuals with L-2-HGA is somewhat variable, but affected individual...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,多中心研究


    authors: Sass JO,Jobard F,Topçu M,Mahfoud A,Werlé E,Cure S,Al-Sannaa N,Alshahwan SA,Bataillard M,Cimbalistiene L,Grolik C,Kemmerich V,Omran H,Sztriha L,Tabache M,Fischer J

    更新日期:2008-12-01 00:00:00

  • Role of miRNAs in human disease and inborn errors of metabolism.

    abstract::MicroRNAs (miRNAs) are short, noncoding RNAs that regulate gene expression posttranscriptionally by base pairing with target messenger RNAs (mRNAs). They are estimated to target ∼60% of all human protein-coding genes and are involved in regulating key physiological processes and intracellular signaling pathways. They ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Rivera-Barahona A,Pérez B,Richard E,Desviat LR

    更新日期:2017-07-01 00:00:00

  • Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency.

    abstract::Despite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model revealed r...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Chen W,Caston R,Balakrishnan B,Siddiqi A,Parmar K,Tang M,Feng M,Lai K

    更新日期:2017-01-01 00:00:00

  • Cross-sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease.

    abstract:BACKGROUND:Morphology and function of Fabry cardiomyopathy has been previously studied by echocardiography and cardiac magnetic resonance (CMR). However, the value of electrocardiography (ECG) in relation to these two techniques remains largely unknown. METHODS:One hundred fifty genetically confirmed Fabry patients we...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Niemann M,Hartmann T,Namdar M,Breunig F,Beer M,Machann W,Herrmann S,Ertl G,Wanner C,Weidemann F

    更新日期:2013-09-01 00:00:00

  • Tyrosine monitoring in children with early and continuously treated phenylketonuria: results of an international practice survey.

    abstract::Investigations into the biochemical markers associated with executive function (EF) impairment in children with early and continuously treated phenylketonuria (ECT-PKU) remain largely phenylalanine-only focused, despite experimental data showing that a high phenylalanine:tyrosine (phe:tyr) ratio is more strongly assoc...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,多中心研究


    authors: Sharman R,Sullivan KA,Young RM,McGill JJ

    更新日期:2010-12-01 00:00:00

  • Transport and storage of metals.

    abstract::Current understanding of the means by which the trace metals copper, iron, and zinc are transported and stored in the human body is reviewed. Although metal-related inherited metabolic diseases manifest themselves as deficiencies in metalloenzymes, these deficiencies in fact arise from disturbances in the absorption/r...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Laurie SH

    更新日期:1983-01-01 00:00:00

  • A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family.

    abstract::Leigh syndrome is a neurodegenerative disorder of infancy or childhood generally due to mutations in nuclear or mitochondrial genes involved in mitochondrial energy metabolism. We performed linkage analysis in an Ashkenazi Jewish (AJ) family without consanguinity with three affected children. Linkage to microsatellite...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Anderson SL,Chung WK,Frezzo J,Papp JC,Ekstein J,DiMauro S,Rubin BY

    更新日期:2008-12-01 00:00:00

  • Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease.

    abstract::Menkes disease (MD) is a neurodegenerative disorder characterized by a copper deficiency in the brain. It is caused by the defective intestinal absorption of copper resulting from a deficiency of a copper-transporting ATPase, ATP7A. This gives rise to an accumulation of copper in the intestine. The copper deficiency i...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Kodama H,Sato E,Gu YH,Shiga K,Fujisawa C,Kozuma T

    更新日期:2005-01-01 00:00:00

  • Mitochondrial myopathies.

    abstract::The mitochondrial myopathies or encephalomyopathies with known biochemical defects can be divided into 5 groups: (1) defects of mitochondrial transport, such as CPT deficiency or carnitine deficiencies; (2) defects of substrate utilization, such as PDHC deficiency or defects of beta-oxidation; (3) defects of the Krebs...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: DiMauro S,Bonilla E,Zeviani M,Servidei S,DeVivo DC,Schon EA

    更新日期:1987-01-01 00:00:00

  • International Paediatric Mitochondrial Disease Scale.

    abstract:OBJECTIVE:There is an urgent need for reliable and universally applicable outcome measures for children with mitochondrial diseases. In this study, we aimed to adapt the currently available Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to the International Paediatric Mitochondrial Disease Scale (IPMDS) durin...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,多中心研究


    authors: Koene S,Hendriks JCM,Dirks I,de Boer L,de Vries MC,Janssen MCH,Smuts I,Fung CW,Wong VCN,de Coo IRFM,Vill K,Stendel C,Klopstock T,Falk MJ,McCormick EM,McFarland R,de Groot IJM,Smeitink JAM

    更新日期:2016-09-01 00:00:00

  • Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.

    abstract::A biochemical variant of argininosuccinate lyase deficiency, found in five individuals, is introduced. In comparison to classical patients, the variant cases of argininosuccinate lyase deficiency were characterized by residual enzyme activity as measured by the incorporation of [14C]citrulline into proteins. The five ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Kleijer WJ,Garritsen VH,Linnebank M,Mooyer P,Huijmans JG,Mustonen A,Simola KO,Arslan-Kirchner M,Battini R,Briones P,Cardo E,Mandel H,Tschiedel E,Wanders RJ,Koch HG

    更新日期:2002-09-01 00:00:00

  • Expanded newborn screening in New South Wales: missed cases.

    abstract::There have been few reports of cases missed by expanded newborn screening. Tandem mass spectrometry was introduced in New South Wales, Australia in 1998 to screen for selected disorders of amino acid, organic acid and fatty acid metabolism. Of 1,500,000 babies screened by 2012, 1:2700 were diagnosed with a target diso...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Estrella J,Wilcken B,Carpenter K,Bhattacharya K,Tchan M,Wiley V

    更新日期:2014-11-01 00:00:00

  • Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency.

    abstract::Four myopathic patients with complex I deficiency followed diets containing 55 energy per cent (En%) as fat or 25 En% as fat, both for three weeks. Maximal workload and muscle force were not different on either diet. Exercise endurance time, oxygen consumption and lactate levels were also not different, but one patien...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: de Meer K,Roef MJ,de Klerk JB,Bakker HD,Smit GP,Poll-The BT

    更新日期:2005-01-01 00:00:00

  • International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

    abstract::Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients pr...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审


    authors: Altassan R,Radenkovic S,Edmondson AC,Barone R,Brasil S,Cechova A,Coman D,Donoghue S,Falkenstein K,Ferreira V,Ferreira C,Fiumara A,Francisco R,Freeze H,Grunewald S,Honzik T,Jaeken J,Krasnewich D,Lam C,Lee J,Lefeber

    更新日期:2021-01-01 00:00:00

  • Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: two novel cases.

    abstract::This study reports three novel mutations of the methionine adenosyltransferase (MAT) lA gene and confirms that hyperhomocysteinaemia may be a characteristic finding in MAT I/III deficiency. Thus, MAT I/III deficiency is important in the differential diagnoses of hyperhomocysteinaemia, which may lead to clinical compli...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Linnebank M,Lagler F,Muntau AC,Röschinger W,Olgemöller B,Fowler B,Koch HG

    更新日期:2005-01-01 00:00:00

  • A new variant of glycogen storage disease type 1: probably due to a defect in the glucose-6-phosphate transport system.

    abstract::A new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of glucose-6-phosphatase (G6Pase) deficiency, is described. Assay of G6Pase in liver from the patient immediately after biopsy by the method of Nordlie and Arion gave low activity (0.8 mumol/min...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Igarashi Y,Otomo H,Narisawa K,Tada K

    更新日期:1980-01-01 00:00:00

  • Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

    abstract::Four neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 micromol/L) were investigated further to differentiate between phenylalanine hydroxylase (PAH) deficiency and variant hyperphenylalaninaemia (HPA) forms. In patients 1 and 2 a tetrahydrobiopterin (BH4) load caused a sig...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Spaapen LJ,Bakker JA,Velter C,Loots W,Rubio-Gozalbo ME,Forget PP,Dorland L,De Koning TJ,Poll-The BT,Ploos van Amstel HK,Bekhof J,Blau N,Duran M

    更新日期:2001-06-01 00:00:00

  • Hypercholesterolaemia type II: changes in plasma insulin and glucagon levels after portacaval shunt.

    abstract::Insulinaemia and glucagonaemia were measured in two cases of hypercholesterolaemia type II, before and after portacaval shunt. The results show an increase of both hormones although these variations are not concomitant with the decrease in cholesterolaemia. The data still do not explain the mechanism of the decrease. ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Farriaux JP,Luyckx AS,Ribet M

    更新日期:1980-01-01 00:00:00

  • Intravenous immune globulin in lysinuric protein intolerance.

    abstract::In addition to systemic manifestations with skeletal, pulmonary, renal, and haematological signs, lysinuric protein intolerance (LPI), a membrane transport defect of cationic amino acids, is often complicated by severe life-threatening immunological manifestations. A 10-year-old boy with LPI who exhibited a severe sys...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Dionisi-Vici C,De Felice L,el Hachem M,Bottero S,Rizzo C,Paoloni A,Goffredo B,Sabetta G,Caniglia M

    更新日期:1998-04-01 00:00:00

  • Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy.

    abstract::Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare disorder of bile acid synthesis caused by deficiency of the enzyme sterol 27-hydroxylase. It results in deficiency of bile acids and accumulation of abnormal bile alcohols and accelerated cholesterol synthesis. CTX usually presents in the second or third decad...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Pierre G,Setchell K,Blyth J,Preece MA,Chakrapani A,McKiernan P

    更新日期:2008-12-01 00:00:00

  • Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.

    abstract::Sjögren-Larsson syndrome (SLS) is a rare neurometabolic syndrome caused by deficient fatty aldehyde dehydrogenase. Patients exhibit intellectual disability, spastic paraplegia, and ichthyosis. The accumulation of fatty alcohols and fatty aldehydes has been demonstrated in plasma and skin but never in brain. Brain magn...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Staps P,Rizzo WB,Vaz FM,Bugiani M,Giera M,Heijs B,van Kampen AHC,Pras-Raves ML,Breur M,Groen A,Ferdinandusse S,van der Graaf M,Van Goethem G,Lammens M,Wevers RA,Willemsen MAAP

    更新日期:2020-11-01 00:00:00

  • Hearing loss in children with Fabry disease.

    abstract:BACKGROUND:Hearing loss (HL) is a well-known feature of Fabry disease (FD). Its presence and characteristics have mainly been studied in adult patients, while only limited data are available on the presence and degree of HL in children with FD. This prompted us to study hearing sensitivity in pediatric FD patients. ME...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Suntjens E,Dreschler WA,Hess-Erga J,Skrunes R,Wijburg FA,Linthorst GE,Tøndel C,Biegstraaten M

    更新日期:2017-09-01 00:00:00

  • Gonadal function in patients with galactosaemia.

    abstract::Gonadal function was followed in 26 females and 12 males with galactosaemia due to deficiency of the enzyme galactose-1-phosphate (Gal-1-P) uridyl transferase over a 4 year period. Gonadal function was normal in males, but all females except two had evidence of acquired ovarian failure. Twelve females with ovarian fai...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Kaufman FR,Donnell GN,Roe TF,Kogut MD

    更新日期:1986-01-01 00:00:00

  • Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result.

    abstract::In many European countries neonatal screening has been introduced over the last 50 years as an important public health programme. Depending on health care structure, available funds, local politics, input from professional groups, parent groups, and the general public this introduction has led to different approaches ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Loeber JG,Burgard P,Cornel MC,Rigter T,Weinreich SS,Rupp K,Hoffmann GF,Vittozzi L

    更新日期:2012-07-01 00:00:00

  • Update on transcobalamin deficiency: clinical presentation, treatment and outcome.

    abstract::Transcobalamin (TC) transports cobalamin from blood into cells. TC deficiency is a rare autosomal recessive disorder usually presenting in early infancy with failure to thrive, weakness, diarrhoea, pallor, anemia, and pancytopenia or agammaglobulinemia. It can sometimes resemble neonatal leukemia or severe combined im...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章


    authors: Trakadis YJ,Alfares A,Bodamer OA,Buyukavci M,Christodoulou J,Connor P,Glamuzina E,Gonzalez-Fernandez F,Bibi H,Echenne B,Manoli I,Mitchell J,Nordwall M,Prasad C,Scaglia F,Schiff M,Schrewe B,Touati G,Tchan MC,Varet B

    更新日期:2014-05-01 00:00:00