• Disease
  • Inborn
  • Inborn Errors
  • Carlo Dionisi‐vici

    Prominent publications by Carlo Dionisi‐Vici

    KOL Index score: 14550

    BACKGROUND: The encephalomyopathic mtDNA depletion syndrome with methylmalonic aciduria is associated with deficiency of succinate-CoA ligase, caused by mutations in SUCLA2 or SUCLG1. We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients.

    PATIENTS AND RESULTS: Of the 71 patients, 50 had SUCLA2 mutations and 21 had SUCLG1 mutations. In the newly-reported 20 SUCLA2 patients we found ...

    Also Ranks for: Sucla2 Mutations |  coa ligase |  suclg1 deficiency |  methylmalonic acid |  dna mitochondrial
    KOL Index score: 14303

    'Classical organic acidurias' comprise isovaleric aciduria, propionic aciduria and methylmalonic aciduria. Available data from the literature suggest that the use of 'new' therapeutic strategies has improved survival but has not modified neurodevelopment. Progressive neurocognitive deterioration is almost invariably present in propionic and methylmalonic acidurias, while large-scale studies on the long-term outcome of patients with isovaleric aciduria are still lacking. In order to ...

    Also Ranks for: Isovaleric Aciduria |  tandem mass spectrometry |  methylmalonic acid |  expanded newborn |  term outcome
    KOL Index score: 13282

    BACKGROUND: The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific.

    AIMS/METHODS: To improve the knowledge about OAD and UCD the E-IMD consortium established a web-based patient registry.

    RESULTS: We registered 795 patients with OAD (n = 452) and UCD (n = 343), with ornithine transcarbamylase (OTC) deficiency (n = 196), glutaric aciduria type 1 (GA1; n = 150) and methylmalonic aciduria (MMA; n = 149) ...

    Also Ranks for: Organic Acidurias |  cycle disorders |  initial presentation |  phenotypic spectrum |  oad ucd
    KOL Index score: 11830

    One pedigree with four patients has been recently described with mitochondrial DNA depletion and mutation in SUCLA2 gene leading to succinyl-CoA synthase deficiency. Patients had a Leigh-like encephalomyopathy and deafness but besides the presence of lactic acidosis, the profile of urine organic acid was not reported. We have studied 14 patients with mild 'unlabelled' methylmalonic aciduria (MMA) from 11 families. Eight of the families are from the Faroe Islands, having a common ...

    Also Ranks for: Methylmalonic Acid |  sucla2 mutations |  faroe islands |  mitochondrial dna |  patients deafness
    KOL Index score: 11269

    BACKGROUND: The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood.

    AIMS: To evaluate the complex clinical phenotype of OAD and UCD patients at different ages.

    RESULTS: Acquired microcephaly and movement disorders were common in OAD and UCD highlighting that the brain is the major organ involved in these diseases. Cardiomyopathy [methylmalonic (MMA) and propionic aciduria (PA)], prolonged QTc interval ...

    Also Ranks for: Organic Acidurias |  cycle disorders |  ucd patients |  clinical phenotype |  glutarylcoa dehydrogenase
    KOL Index score: 9801

    BACKGROUND AND AIM: Patients with methylmalonic acidemia (MMA) and propionic acidemia (PA) and urea cycle disorders (UCD), treated with a protein restricted diet, are prone to growth failure. To obtain optimal growth and thereby efficacious protein incorporation, a diet containing the essential and functional amino acids for growth is necessary. Optimal growth will result in improved protein tolerance and possibly a decrease in the number of decompensations. It thus needs to be ...

    Also Ranks for: Urea Cycle Disorders |  amino acid |  patients protein |  mma pa |  height score
    KOL Index score: 9700

    Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset encephalopathy with signs of oxidative phosphorylation defects classified as pontocerebellar hypoplasia 6. We describe clinical, neuroimaging and molecular features on five patients from three unrelated families who displayed mutations in RARS2. All patients rapidly developed a neonatal or early-infantile epileptic encephalopathy with intractable seizures. The ...

    Also Ranks for: Pontocerebellar Hypoplasia |  clinical spectrum |  mutations rars2 |  progressive microcephaly |  brain mri
    KOL Index score: 9637

    Non-alcoholic fatty liver disease (NAFLD) is a spectrum of metabolic abnormalities ranging from simple triglyceride accumulation in the hepatocytes to hepatic steatosis with inflammation, ballooning and fibrosis. It has been demonstrated that the pathogenesis of NAFLD involves increased oxidative stress, with consumption of the major cellular antioxidant, glutathione (GSH). Liver has a fundamental role in sulfur compound metabolism, although the data reported on plasma thiols status in ...

    Also Ranks for: Hcy Cys |  liver damage |  nafld patients |  alcoholic fatty |  glutathione gsh
    KOL Index score: 9501

    Vici syndrome is a recessively inherited multisystem disorder characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. To investigate the molecular basis of Vici syndrome, we carried out exome and Sanger sequence analysis in a cohort of 18 affected individuals. We identified recessive mutations in EPG5 (previously KIAA1632), indicating a causative role in Vici syndrome. EPG5 is the human homolog of the metazoan-specific autophagy gene ...

    Also Ranks for: Vici Syndrome |  defective autophagy |  recessive mutations |  multisystem disorder |  corpus callosum antigens
    KOL Index score: 9306

    Glycogen-storage diseases type I (GSD type I) are due to a deficiency in glucose-6-phosphatase, an enzymatic system present in the endoplasmic reticulum that plays a crucial role in blood glucose homeostasis. Unlike GSD type Ia, types Ib and Ic are not due to mutations in the phosphohydrolase gene and are clinically characterized by the presence of associated neutropenia and neutrophil dysfunction. Biochemical evidence indicates the presence of a defect in glucose-6-phosphate (GSD type ...

    Also Ranks for: Putative Glucose |  storage disease |  gsd type |  gene mutations |  phosphate transport
    KOL Index score: 9171

    Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis of glycans and in the attachment of glycans to lipids and proteins. Actually, some 42 CDG are known including defects in protein N-glycosylation, in protein O-glycosylation, in lipid glycosylation, and in multiple and other glycosylation pathways. Most CDG are multisystem diseases and a large number of signs and symptoms have already been reported in CDG. An exception to this is deafness. ...

    Also Ranks for: Congenital Disorders |  glycosylation cdg |  hearing loss |  patients rft1 |  sensorineural humans
    KOL Index score: 9128

    Methylmalonic aciduria (MMA) and homocystinuria, cblC type (MIM 277400) is the most frequent inborn error of vitamin B(12). The recent identification of the disease gene, MMACHC, has permitted preliminary genotype-phenotype correlations. We studied 24 Italian and 17 Portuguese patients with cblC defect to illustrate the spectrum of mutations in a southern European population and discuss the impact that mutation identification has on routine diagnostic procedures. Since the metabolic ...

    Also Ranks for: Methylmalonic Aciduria |  cblc defect |  mmachc mutations |  vitamin b12 |  disease gene
    KOL Index score: 9107

    Two oxysterols, cholestan-3β,5α,6β-triol (C-triol) and 7-ketocholesterol (7-KC), have been recently proposed as diagnostic markers of Niemann-Pick type C (NP-C) disease, representing a potential alternative diagnostic tool to the more invasive and time consuming filipin test in cultured fibroblasts. Usually, the oxysterols are detected and quantified by liquid chromatography-tandem mass spectrometry (LC-MS/MS) method using atmospheric pressure chemical ionization (APCI) or ...

    Also Ranks for: Pick Type |  plasma oxysterols |  triol 7 |  concentration range |  liquid chromatography
    KOL Index score: 9095

    Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological, and neuropathological features of 50 children from 30 families, as well as the neuronal phenotype of EPG5 knock-down in Drosophila melanogaster. We identified 39 different EPG5 mutations, most of them truncating and predicted to result in reduced EPG5 protein. Most mutations were private, but three recurrent ...

    Also Ranks for: Neurodevelopmental Disorders |  defective autophagy |  vici syndrome |  callosal agenesis |  epg5 mutation
    KOL Index score: 9063

    Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one activating enzyme and one mitochondrial ornithine/citrulline antiporter) with an estimated incidence of 1:8.000. Patients present with hyperammonemia either shortly after birth (~50%) or, later at any age, leading to death or to severe neurological handicap in many survivors. Despite the existence of ...

    Also Ranks for: Urea Cycle Disorders |  suggested guidelines |  liver transplantation |  health professionals |  delayed diagnosis


    Carlo Dionisi‐Vici: Influence Statistics

    Sample of concepts for which Carlo Dionisi‐Vici is among the top experts in the world.
    Concept World rank
    iem dialysis #1
    mednik syndrome mutation #1
    disorder lpi #1
    32 nbs programmes #1
    asmd lysosphingolipids #1
    pg93r #1
    lpi italian patients #1
    47 centres #1
    t440m t468r #1
    autophagy vici #1
    nbs test #1
    patients specific chapters #1
    coma levels #1
    risk metabolic emergency #1
    phosphatidylethano #1
    plasma methylcitric acid #1
    tubules male nitrobenzoates #1
    oglycan nglycan profiling #1
    aldh18a1 product #1
    plan emergency management #1
    hypoglycemic lesions #1
    psychomotor evaluations acquisition #1
    lal deficiency slos #1
    ketogenic diet gsh #1
    new aldh18a1 mutations #1
    21 updated recommendations #1
    resultsnbs programmes #1
    onset cobalamin #1
    hyperammonemia iem #1
    drug unresponsive #1
    centres nbs data #1
    decision limits 100 #1
    mma msud patients #1
    patients tubular defect #1
    plasma concentrations ucds #1
    metabolism neonatal death #1
    arginine levels interrogations #1
    arginine transport monocytes #1
    setting current article #1
    juvenile adult gm1gangliosidosis #1
    effects ntbc therapy #1
    deficiency refeeding #1
    professionals ucds #1
    vesicular trafficking organelles #1
    deficiency revealed #1
    lysosm npc #1
    types single disorder #1
    lpi macrophages #1
    mma groups nystagmus #1
    median decision limits #1

    Key People For Inborn Errors

    Top KOLs in the world
    Georg Friedrich Hoffmann'
    newborn screening inborn errors glutaric aciduria type
    Jean‐Marie Saudubray
    inborn errors peroxisomal disorders prenatal diagnosis
    Marinus Duran
    inborn errors fatty acids phytanic acid
    Bridget M Wilcken
    newborn screening cystic fibrosis inborn errors
    James Vivian Leonard
    inborn errors glycogen storage disease type
    Ronald J A Wanders
    peroxisomal disorders phytanic acid zellweger syndrome

    Carlo Dionisi‐Vici:Expert Impact

    Concepts for whichCarlo Dionisi‐Vicihas direct influence:Inborn errors,  Hhh syndrome,  Vici syndrome,  Newborn screening,  Simultaneous determination,  Mthfr deficiency,  Methylmalonic aciduria,  Urea cycle disorders.

    Carlo Dionisi‐Vici:KOL impact

    Concepts related to the work of other authors for whichfor which Carlo Dionisi‐Vici has influence:Inborn errors,  Newborn screening,  Propionic acidemia,  Leigh syndrome,  Ketogenic diet,  Mitochondrial diseases,  Congenital disorders.



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    Metabolic Diseases Unit, Bambino Gesù Children's Hospital IRCCS, Rome, Italy | Unit of Metabolic Diseases, Bambino Gesù Children Hospital IRCCS, Rome, Italy | Division of Metabolic Diseases, Bambino Gesù Children's Hospital IRCCS, Rome, Italy. Electr