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K. Sarafoglou, G. F. Hoffmann, K. S. Roth (eds): Pediatric endocrinology and inborn errors of metabolism. Second edition
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 31, 2017 Category: Internal Medicine Source Type: research

Autism spectrum disorders in propionic acidemia patients
In conclusion, autism spectrum disorder is frequent in patients with propionic acidemia. These patients should undergo in- depth psychiatric evaluation and be screened for autism spectrum disorder. Further studies are needed to understand the underlying mechanisms. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 30, 2017 Category: Internal Medicine Source Type: research

Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics
AbstractPeroxisomes play an important role in a variety of metabolic pathways, including the α- and β-oxidation of fatty acids, and the biosynthesis of ether phospholipids. Single peroxisomal enzyme deficiencies (PEDs) are a group of peroxisomal disorders in which either a peroxisomal matrix enzyme or a peroxisomal membrane transporter protein is deficient. To investigate the functional c onsequences of specific enzyme deficiencies on the lipidome, we performed lipidomics using cultured skin fibroblasts with different defects in the β-oxidation of very long-chain fatty acids, including ABCD1- (ALD), acyl-CoA oxidase 1 (...
Source: Journal of Inherited Metabolic Disease - August 28, 2017 Category: Internal Medicine Source Type: research

Advances in metabolome information retrieval: turning chemistry into biology. Part II: biological information recovery
AbstractThis work reports the second part of a review intending to give the state of the art of major metabolic phenotyping strategies. It particularly deals with inherent advantages and limits regarding data analysis issues and biological information retrieval tools along with translational challenges. This Part starts with introducing the main data preprocessing strategies of the different metabolomics data. Then, it describes the main data analysis techniques including univariate and multivariate aspects. It also addresses the challenges related to metabolite annotation and characterization. Finally, functional analysis...
Source: Journal of Inherited Metabolic Disease - August 25, 2017 Category: Internal Medicine Source Type: research

Advances in metabolome information retrieval: turning chemistry into biology. Part I: analytical chemistry of the metabolome
AbstractMetabolites are small molecules produced by enzymatic reactions in a given organism. Metabolomics or metabolic phenotyping is a well-established omics aimed at comprehensively assessing metabolites in biological systems. These comprehensive analyses use analytical platforms, mainly nuclear magnetic resonance spectroscopy and mass spectrometry, along with associated separation methods to gather qualitative and quantitative data. Metabolomics holistically evaluates biological systems in an unbiased, data-driven approach that may ultimately support generation of hypotheses. The approach inherently allows the molecular...
Source: Journal of Inherited Metabolic Disease - August 24, 2017 Category: Internal Medicine Source Type: research

Predictability and inconsistencies in the cognitive outcome of early treated PKU patients
AbstractLong-term cognitive outcome and treatment of adult early treated (ET)PKU patients is a main issue in PKU research. We questioned whether the intellectual development of ETPKU patients is stable and to what extent its variation may be predicted by the quality of metabolic control. The aims of the present longitudinal retrospective study were to assess in young adult ETPKU patients: i) the relationship between IQ and metabolic control during the first two decades of life; and ii) the intra- and interindividual variability in the developmental trajectory which cannot be predicted by the disease ’s biomarkers. We col...
Source: Journal of Inherited Metabolic Disease - August 23, 2017 Category: Internal Medicine Source Type: research

PRKAG2 mutations presenting in infancy
AbstractPRKAG2 encodes the γ2 subunit of AMP-activated protein kinase (AMPK), which is an important regulator of cardiac metabolism. Mutations inPRKAG2 cause a cardiac syndrome comprising ventricular hypertrophy, pre-excitation, and progressive conduction-system disease, which is typically not diagnosed until adolescence or young adulthood. However, significant variability exists in the presentation and outcomes of patients withPRKAG2 mutations, with presentation in infancy being underrecognized. The diagnosis of PRKAG2 can be challenging in infants, and we describe our experience with three patients who were initially su...
Source: Journal of Inherited Metabolic Disease - August 11, 2017 Category: Internal Medicine Source Type: research

Vitamin B6 is essential for serine de novo biosynthesis
AbstractPyridoxal 5 ′-phosphate (PLP), the metabolically active form of vitamin B6, plays an essential role in brain metabolism as a cofactor in numerous enzyme reactions. PLP deficiency in brain, either genetic or acquired, results in severe drug-resistant seizures that respond to vitamin B6 supplementation. The pat hogenesis of vitamin B6 deficiency is largely unknown. To shed more light on the metabolic consequences of vitamin B6 deficiency in brain, we performed untargeted metabolomics in vitamin B6-deprived Neuro-2a cells. Significant alterations were observed in a range of metabolites. The most surprising observati...
Source: Journal of Inherited Metabolic Disease - August 11, 2017 Category: Internal Medicine Source Type: research

PMM2-CDG and sensorineural hearing loss
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - July 31, 2017 Category: Internal Medicine Source Type: research

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature
AbstractCongenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to severe poly-organ -system dysfunction. This literature review summarizes cardiac involvement, reported in 20% of CDG. CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylatio...
Source: Journal of Inherited Metabolic Disease - July 19, 2017 Category: Internal Medicine Source Type: research

Loss of sirtuin 4 leads to elevated glucose- and leucine-stimulated insulin levels and accelerated age-induced insulin resistance in multiple murine genetic backgrounds
AbstractSeveral inherited metabolic disorders are associated with an accumulation of reactive acyl-CoA metabolites that can non-enzymatically react with lysine residues to modify proteins. While the role of acetylation is well-studied, the pathophysiological relevance of more recently discovered acyl modifications, including those found in inherited metabolic disorders, warrants further investigation. We recently showed that sirtuin 4 (SIRT4) removes glutaryl, 3-hydroxy-3-methylglutaryl, 3-methylglutaryl, and 3-methylglutaconyl modifications from lysine residues. Thus, we used SIRT4 knockout mice, which can accumulate thes...
Source: Journal of Inherited Metabolic Disease - July 19, 2017 Category: Internal Medicine Source Type: research

Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia
AbstractOne of many vexing decisions faced by parents of an infant with classic galactosemia (CG) is how carefully to restrict non-dairy galactose from their growing child ’s diet. Until recently, many experts recommended vigorous lifelong dietary restriction of milk and all high-galactose dairy products as well as some non-dairy sources of galactose such as legumes and specific fruits and vegetables. Recently, experts have begun to relax their recommendations. The new recommendations, that restrict only high galactose dairy products, were made in the face of uncertainty, however, because no sufficiently powered study ha...
Source: Journal of Inherited Metabolic Disease - July 10, 2017 Category: Internal Medicine Source Type: research

Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis
AbstractSuccinyl-CoA:3-oxoacid CoA transferase (SCOT, gene symbolOXCT1) deficiency is an autosomal recessive disorder in ketone body utilization that results in severe recurrent ketoacidotic episodes in infancy, including neonatal periods. More than 30 patients with this disorder have been reported and to our knowledge, their heterozygous parents and siblings have had no apparent ketoacidotic episodes. Over 5  years (2008–2012), we investigated several patients that presented with severe ketoacidosis and identified a heterozygousOXCT1 mutation in four of these cases (Case1 p.R281C, Case2 p.T435N, Case3 p.W213*, Case4 c....
Source: Journal of Inherited Metabolic Disease - July 10, 2017 Category: Internal Medicine Source Type: research

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients
We present the foetal, peri- and neonatal features of 31 patients, of which five are previously unreported, using a newly developed clinical severity scoring system rating the clinical, metabolic, imaging and other findings weighted by the age of onset. Our data are illustrated by foetal and neonatal videos. The patients were classified as having a mild (n = 4), moderate (n = 13) or severe (n = 14) disease phenotype. The most striking feature of the severe subtype was the neonatal absence of voluntary movements in combination with ventilator dependency and hyperexcitability. The foetal and neonatal presentation mirro...
Source: Journal of Inherited Metabolic Disease - July 7, 2017 Category: Internal Medicine Source Type: research

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders
DiscussionC26:0-lysoPC in DBS is a sensitive and useful marker for VLCFA accumulation in patients with a ZSD. C26:0-carnitine in DBS is elevated in some ZSD patients, but is less useful as a diagnostic marker. Implementation of C26:0-lysoPC measurement in the diagnostic work-up when suspecting a ZSD is advised. This marker has the potential to be used for newborn screening for ZSD. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - July 4, 2017 Category: Internal Medicine Source Type: research