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Living Reference Work Entry In depth
Vici Syndrome (VICIS)
OMIM: #242840
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Chapter
Disorders of Copper, Zinc, and Selenium Metabolism
Copper, zinc, and selenium are essential trace elements serving as cofactors of many important metalloenzymes. Copper and zinc uptake requires specific carriers in the intestine. Selenium absorption occurs in ...
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Chapter
Emergency Diagnostic Procedures and Emergency Treatment
Metabolic emergencies need to be recognized promptly, and effective treatment needs to be initiated immediately to optimize clinical outcomes. A significant proportion of patients with inborn errors of metabol...
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Reference Work Entry In depth
Renal Manifestations of Metabolic Disorders in Children
While the majority of children with renal dysfunction have structural, immunological, or infectious disorders, some have metabolic defects arising from abnormalities in biochemical pathways of cell metabolism....
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Article
Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature
The PI3K/AKT/mTOR signaling pathway is important for the regulation of multiple biological processes, including cellular growth and glucose metabolism. Defects of the PI3K/AKT/mTOR signaling pathway are not us...
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Article
Open AccessClinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in child...
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Article
Open AccessClinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)
We aimed to identify clinical, molecular and radiological correlates of activities of daily living (ADL) in patients with cerebellar atrophy caused by PMM2 mutations (PMM2-CDG), the most frequent congenital disor...
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Article
Open AccessEthylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient
Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based on the promising results obtained by liver-target...
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Article
Open AccessU-IMD: the first Unified European registry for inherited metabolic diseases
Following the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherite...
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Article
Reply to: “Is the spinal cord truly affected in half of the patients with Kearns-Sayre syndrome?” and “Spinal cord and heart involvement in Kearns Sayre Syndrome: which link?”
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Living Reference Work Entry In depth
Renal Manifestations of Metabolic Disorders in Children
While the majority of children with renal dysfunction have structural, immunological, or infectious disorders, some have metabolic defects arising from abnormalities in biochemical pathways of cell metabolism....
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Article
Correction to: Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study
The original article was published with an incorrect presentation of all author names.
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Article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey
Many aspects of epilepsy in mitochondrial disorders (MDs) need to be further clarified. To this aim, we explored retrospectively a cohort of individuals with MDs querying the “Nationwide Italian Collaborative ...
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Article
Microbial Contamination and Disinfection of Sport Mouthguard: In Vitro Study
Mouthguards in Ethylene Vinyl Acetate (EVA) should be sanitized to prevent alteration of oral microbiota. The present study determined, in vitro and by SEM observation, the decontaminating effect of different ...
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Article
Reply to: Viability of diffusion tensor imaging for assessing retrochiasmatic involvement in Kearns-Sayre syndrome remains elusive
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Article
Visual pathways evaluation in Kearns Sayre syndrome: a diffusion tensor imaging study
Kearns Sayre syndrome (KSS) is a mitochondrial disorder characterized by development of visual impairment. Electroretinogram (ERG) and visual evoked potentials are not able to provide topographical information...
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Article
Open AccessLoss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGD...
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Article
Open AccessCorticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
Hyperornithinemia–hyperammonemia–homocitrullinuria (HHH) syndrome is a rare disorder of urea cycle characterized by progressive pyramidal and cerebellar dysfunction, whose pathophysiology is not yet fully unde...
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Article
Open AccessAnalysis of LPI-causing mutations on y+LAT1 function and localization
y+LAT1, encoded by SCL7A7, is the protein mutated in Lysinuric Protein Intolerance (LPI), a rare metabolic disease caused by a defective cationic amino acid (CAA, arginine, lysine, ornithine) transport at the ...
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Article
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects...
