Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.

Abstract:

INTRODUCTION:Long-term outcome is postulated to be different in isolated methylmalonic aciduria caused by mutations in the MMAA gene (cblA type) compared with methylmalonyl-CoA mutase deficiency (mut), but case definition was previously difficult. METHOD:Cross-sectional analysis of data from the European Registry and Network for Intoxication type Metabolic Diseases (Chafea no. December 1, 2010). RESULTS:Data from 28 cblA and 95 mut patients in most cases confirmed by mutation analysis (including 4 new mutations for cblA and 19 new mutations for mut). Metabolic crisis is the predominant symptom leading to diagnosis in both groups. Biochemical disturbances during the first crisis were similar in both groups, as well as the age at diagnosis. Z scores of body height and body weight were similar in both groups at birth, but were significantly lower in the mut group at the time of last visit. Glomerular filtration rate was significantly higher in cblA; and as a consequence, chronic renal failure and related complications were significantly less frequent and renal function could be preserved even in older patients. Neurological complications were predominantly found in the mut subgroup. Methylmalonic acidemia (MMA) levels in urine and plasma were significantly lower in cblA. 27/28 cblA patients were reported to be responsive to cobalamin, only 86% of cblA patients were treated with i.m. hydroxocobalamin. In total, 73% of cblA and 98% of mut patients followed a calculated diet with amino acid supplements in 27% (cblA) and 69% (mut). During the study interval, six patients from the mut group died, while all cblA patients survived. CONCLUSION:Although similar at first, cblA patients respond to hydroxocobalamin treatment, subsequently show significantly lower levels of MMA and a milder course than mut patients.

journal_name

J Inherit Metab Dis

authors

Hörster F,Tuncel AT,Gleich F,Plessl T,Froese SD,Garbade SF,Kölker S,Baumgartner MR,Additional Contributors from E-IMD.

doi

10.1002/jimd.12297

subject

Has Abstract

pub_date

2021-01-01 00:00:00

pages

193-214

issue

1

eissn

0141-8955

issn

1573-2665

journal_volume

44

pub_type

杂志文章
  • A survey of Japanese patients with Menkes disease from 1990 to 2003: incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis.

    abstract::Menkes disease (MNK) is a lethal, X-linked recessive disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. The incidence of MNK in Asia is not known. Most patients die by the age of 3 years if adequate treatment is not carried out. Early parenteral administration of ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-005-0473-3

    authors: Gu YH,Kodama H,Shiga K,Nakata S,Yanagawa Y,Ozawa H

    更新日期:2005-01-01 00:00:00

  • The potential of dietary treatment in patients with glycogen storage disease type IV.

    abstract::There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV. In light of the success of dietary treatment for the other hepatic forms of GSD, we have initi...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1002/jimd.12339

    authors: Derks TGJ,Peeks F,de Boer F,Fokkert-Wilts M,van der Doef HPJ,van den Heuvel MC,Szymańska E,Rokicki D,Ryan PT,Weinstein DA

    更新日期:2020-12-17 00:00:00

  • Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

    abstract:BACKGROUND:The cobalamin E (cblE) (MTRR, methionine synthase reductase) and cobalamin G (cblG) (MTR, methionine synthase) defects are rare inborn errors of cobalamin metabolism leading to impairment of the remethylation of homocysteine to methionine. METHODS:Information on clinical and laboratory data at initial full ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-014-9803-7

    authors: Huemer M,Bürer C,Ješina P,Kožich V,Landolt MA,Suormala T,Fowler B,Augoustides-Savvopoulou P,Blair E,Brennerova K,Broomfield A,De Meirleir L,Gökcay G,Hennermann J,Jardine P,Koch J,Lorenzl S,Lotz-Havla AS,Noss J,Parin

    更新日期:2015-09-01 00:00:00

  • The iduronate sulphatase activities of cells and tissue fluids from patients with Hunter syndrome and normal controls.

    abstract::The substrate O-(alpha-L-idopyranosyluronic acid-2-sulphate)-(1 leads to 4)-2,5-anhydro-D-(3H-1) mannitol-6-sulphate was used at a final concentration of 50 mmol/l to measure the alpha-L-idurono-2-sulphate sulphatase activities of cell extracts, serum and amniotic fluid. Activities were measured after dialysis against...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01800738

    authors: Dean MF

    更新日期:1983-01-01 00:00:00

  • Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.

    abstract::Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme acid beta-glucosidase. The most prevalent mutant genotype in type I Gaucher disease, N370S/N370S, is commonly thought to confer a mild phenotype presenting in adulthood. To characterize a subset of more severely affected N370S homozyg...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-008-0868-z

    authors: Fairley C,Zimran A,Phillips M,Cizmarik M,Yee J,Weinreb N,Packman S

    更新日期:2008-12-01 00:00:00

  • Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

    abstract::Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a progressive, multisystemic disease caused by a deficiency of iduronate-2-sulfatase. Patients with the severe form of the disease have cognitive impairment and typically die in the second decade of life. Patients with the less severe form do not experience ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-009-1119-7

    authors: Jones SA,Almássy Z,Beck M,Burt K,Clarke JT,Giugliani R,Hendriksz C,Kroepfl T,Lavery L,Lin SP,Malm G,Ramaswami U,Tincheva R,Wraith JE,HOS Investigators.

    更新日期:2009-08-01 00:00:00

  • Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

    abstract::The content of coenzyme Q(10) (CoQ(10)) was examined in skin fibroblasts of 10 patients with mevalonic aciduria (MVA) and of 22 patients with methylmalonic aciduria (MMA). Patients with these inborn errors of metabolism are thought to be at risk for CoQ(10) depletion either by direct inhibition of the proximal pathway...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-009-1150-8

    authors: Haas D,Niklowitz P,Hörster F,Baumgartner ER,Prasad C,Rodenburg RJ,Hoffmann GF,Menke T,Okun JG

    更新日期:2009-08-01 00:00:00

  • Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

    abstract::We present a 32-year-old patient who, from age 7 months, developed photophobia, left-eye ptosis and progressive muscular weakness. At age 7 years, she showed normal psychomotor development, bilateral ptosis and exercise-induced weakness with severe acidosis. Basal blood and urine lactate were normal, increasing dramat...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-010-9169-4

    authors: Quintana E,Pineda M,Font A,Vilaseca MA,Tort F,Ribes A,Briones P

    更新日期:2010-12-01 00:00:00

  • Titrating a modified ketogenic diet for patients with McArdle disease: A pilot study.

    abstract::Glycogen storage disease type V (GSDV) is a rare inborn error of carbohydrate metabolism. Patients present with exercise intolerance due to blocked glycogen breakdown in skeletal muscle. Introducing alternative fuel substrates, such as ketone bodies (KBs), could potentially alleviate muscle symptoms. This pilot study ...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1002/jimd.12223

    authors: Løkken N,Hansen KK,Storgaard JH,Ørngreen MC,Quinlivan R,Vissing J

    更新日期:2020-07-01 00:00:00

  • Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

    abstract:BACKGROUND:Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset ca...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-017-0086-7

    authors: Stelten BML,Bonnot O,Huidekoper HH,van Spronsen FJ,van Hasselt PM,Kluijtmans LAJ,Wevers RA,Verrips A

    更新日期:2018-07-01 00:00:00

  • A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

    abstract::Classic galactosemia is an autosomal recessive disorder caused by deficient galactose-1-phosphate uridylyltransferase (GALT) activity. Patients develop symptoms in the neonatal period, which can be ameliorated by dietary restriction of galactose. Many patients develop long-term complications, with a broad range of cli...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-013-9623-1

    authors: Coelho AI,Ramos R,Gaspar A,Costa C,Oliveira A,Diogo L,Garcia P,Paiva S,Martins E,Teles EL,Rodrigues E,Cardoso MT,Ferreira E,Sequeira S,Leite M,Silva MJ,de Almeida IT,Vicente JB,Rivera I

    更新日期:2014-01-01 00:00:00

  • Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture.

    abstract::In a series of 137 patients with methylmalonic acidaemia (MMA) and propionic acidaemia (PA) diagnosed since the early 1970s, we report in more detail 81 patients (51 MMA and 30 PA) diagnosed between 1988 and 2005. In this series, 14% of patients died at initial access revealing the disease before or despite treatment,...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-006-0351-7

    authors: Touati G,Valayannopoulos V,Mention K,de Lonlay P,Jouvet P,Depondt E,Assoun M,Souberbielle JC,Rabier D,Ogier de Baulny H,Saudubray JM

    更新日期:2006-04-01 00:00:00

  • Garrod's Croonian Lectures (1908) and the charter 'Inborn Errors of Metabolism': albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008.

    abstract::Garrod presented his concept of 'the inborn error of metabolism' in the 1908 Croonian Lectures to the Royal College of Physicians (London); he used albinism, alkaptonuria, cystinuria and pentosuria to illustrate. His lectures are perceived today as landmarks in the history of biochemistry, genetics and medicine. Garro...

    journal_title:Journal of inherited metabolic disease

    pub_type: 传,历史文章,杂志文章,评审

    doi:10.1007/s10545-008-0984-9

    authors: Scriver CR

    更新日期:2008-10-01 00:00:00

  • Elevated plasma chitotriosidase activity in various lysosomal storage disorders.

    abstract::Recently a striking elevation of the activity of chitotriosidase, an endo beta-glucosaminidase distinct from lysozyme, was found in plasma from patients with Gaucher type I disease (McKusick 230800). Plasma chitotriosidase originates from activated macrophages and this elevation is secondary to the basic defect in Gau...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF02436762

    authors: Guo Y,He W,Boer AM,Wevers RA,de Bruijn AM,Groener JE,Hollak CE,Aerts JM,Galjaard H,van Diggelen OP

    更新日期:1995-01-01 00:00:00

  • Argininosuccinic acid synthetase deficiency in a hamster cell line and its complementation of argininosuccinic aciduria human fibroblasts.

    abstract::Unlike normal human cells, cultured fibroblasts from patients with argininosuccinic aciduria cannot synthesize arginine from citrulline because they have a deficiency of argininosuccinic acid lyase (ASL). We have found that V79, a Chinese hamster cell line, cannot grow on citrulline. Although these cells show a normal...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF02312521

    authors: González-Noriega A,Verduzco J,Prieto E,Velázquez A

    更新日期:1980-01-01 00:00:00

  • Cerebral metabolic change after treatment in biotinidase deficiency.

    abstract::A 13.5-year-old boy with biotinidase deficiency was studied 8 days before and 5 months after biotin treatment by positron emission tomography (PET) and computerized electroencephalographic topography (CET). With biotin treatment there was a marked improvement in the presenting symptom of loss of visual acuity and a mo...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF00710288

    authors: Lott IT,Lottenberg S,Nyhan WL,Buchsbaum MJ

    更新日期:1993-01-01 00:00:00

  • Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.

    abstract::Tetrahydrobiopterin (BH4) is an essential cofactor for the aromatic amino acid hydroxylases, alkylglycerol monooxygenase, and nitric oxide synthases (NOS). Inborn errors of BH4 metabolism lead to severe insufficiency of brain monoamine neurotransmitters while augmentation of BH4 by supplementation or stimulation of it...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-015-9909-6

    authors: Korner G,Scherer T,Adamsen D,Rebuffat A,Crabtree M,Rassi A,Scavelli R,Homma D,Ledermann B,Konrad D,Ichinose H,Wolfrum C,Horsch M,Rathkolb B,Klingenspor M,Beckers J,Wolf E,Gailus-Durner V,Fuchs H,Hrabě de Angelis M,

    更新日期:2016-03-01 00:00:00

  • Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA.

    abstract::Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Due to the severity o...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1007/s10545-012-9459-0

    authors: Hendriksz CJ,Al-Jawad M,Berger KI,Hawley SM,Lawrence R,Mc Ardle C,Summers CG,Wright E,Braunlin E

    更新日期:2013-03-01 00:00:00

  • Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

    abstract::Understanding the relationship between genotype and clinical phenotype will clearly aid in the prognosis, treatment and counselling of patients with lysosomal storage diseases (LSDs). This, however, will require the establishment of widely accepted indices with which to score the severity of LSDs, as these diseases ar...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1023/a:1012419823739

    authors: Maire I

    更新日期:2001-01-01 00:00:00

  • Malonic aciduria in Maltese dogs: normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.

    abstract::A family of Maltese dogs with malonic aciduria is reported. The propositus presented at 3 years of age with episodes of seizures and stupor with hypoglycaemia, acidosis, and ketonuria. Urinary organic acid assays showed elevated malonic acid without elevation of methylmalonic acid. Cultured fibroblasts had normal malo...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1023/a:1005635306257

    authors: O'Brien DP,Barshop BA,Faunt KK,Johnson GC,Gibson KM,Shelton GD

    更新日期:1999-12-01 00:00:00

  • Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

    abstract::Lyso-globotriaosylsphingosine (lyso-Gb3) is a useful biomarker in the diagnosis and monitoring of treatment for Fabry disease. However, it is unclear whether lyso-Gb3 is elevated in patients with later-onset Fabry disease. Thus, we measured lyso-Gb3 levels from dried blood spots (DBS) from male newborns with the Fabry...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-012-9547-1

    authors: Chien YH,Bodamer OA,Chiang SC,Mascher H,Hung C,Hwu WL

    更新日期:2013-09-01 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

    doi:10.1023/a:1010596317296

    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

  • Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling.

    abstract:BACKGROUND:Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder, characterised by chronic diarrhoea, xanthomas, cataracts, and neurological deterioration. CTX is caused by CYP27A1 deficiency, which leads to abnormal cholesterol and bile acid metabolism. Urinary bile acid profiling (increased m/z 627: glucuro...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1002/jimd.12219

    authors: Claesen JLA,Koomen E,Schene IF,Jans JJM,Mast N,Pikuleva IA,van der Ham M,de Sain-van der Velden MGM,Fuchs SA

    更新日期:2020-07-01 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

    doi:10.1023/a:1005383307100

    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

  • 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

    doi:10.1023/a:1005513626542

    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

  • X-linked creatine transporter deficiency: clinical aspects and pathophysiology.

    abstract::Creatine transporter deficiency was discovered in 2001 as an X-linked cause of intellectual disability characterized by cerebral creatine deficiency. This review describes the current knowledge regarding creatine metabolism, the creatine transporter and the clinical aspects of creatine transporter deficiency. The cond...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章,评审

    doi:10.1007/s10545-014-9713-8

    authors: van de Kamp JM,Mancini GM,Salomons GS

    更新日期:2014-09-01 00:00:00

  • Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

    abstract::We hypothesized that blood levels of γ-aminobutyric acid (GABA) and γ-hydroxybutyric acid (GHB), biomarkers of succinic semialdehyde dehydrogenase deficiency (SSADHD), would correlate with age. GABA and GHB were quantified in plasma and red blood cells (RBCs) from 18 patients (age range 5-41 years; median 8). Both met...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/s10545-016-9980-7

    authors: Jansen EE,Vogel KR,Salomons GS,Pearl PL,Roullet JB,Gibson KM

    更新日期:2016-11-01 00:00:00

  • Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.

    abstract::We measured L-ornithine oxidation in cultured skin fibroblasts from seven patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria (HHH) syndrome (McKusick 23897), and compared it with oxidation by ornithine aminotransferase deficient gyrate atrophy (McKusick 25887) cells and lysinuric protein intolerance (M...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01805528

    authors: Botschner J,Smith DW,Simell O,Scriver CR

    更新日期:1989-01-01 00:00:00

  • Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey.

    abstract::Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF01799284

    authors: Saudubray JM,Ogier H,Bonnefont JP,Munnich A,Lombes A,Hervé F,Mitchel G,Thé BP,Specola N,Parvy P

    更新日期:1989-01-01 00:00:00

  • Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome.

    abstract::Recent studies have identified a group of patients with cytochrome oxidase (COX) deficiency presenting in infancy associated with a deficiency of mtDNA in muscle or other affected tissue (Moraes et al 1991). We used a novel approach to compare the level of mitochondrial (mtDNA) compared to nuclear DNA in skeletal musc...

    journal_title:Journal of inherited metabolic disease

    pub_type: 杂志文章

    doi:10.1007/BF00711367

    authors: Poulton J,Sewry C,Potter CG,Bougeron T,Chretien D,Wijburg FA,Morten KJ,Brown G

    更新日期:1995-01-01 00:00:00