Journal of Inherited Metabolic Disease 
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This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.Sweet and sour: an update on classic galactosemia
AbstractClassic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term complications, such as cognitive, social and reproductive impairments. Classic galactosemia represents a heavy burden on patients ’ and their families’ lives. After its first description in 1908 and des...
Source: Journal of Inherited Metabolic Disease - March 8, 2017 Category: Internal Medicine Source Type: research
Mutations in SLC25A22 : hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay
AbstractMutations inSLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. Using whole exome sequencing we identified four novelSLC25A22 mutations in six children from three families. Five patients presented clinical features similar to those in the literature including hypotonia, refractory neonatal-onset seizures and developmental delay. However, the sixth patients presented atypically with isolated developmental delay, developing late-onset (absence) seizures only at 7 years of age. Abnormal metabolite levels have not been documented in the nine patients described prev...
Source: Journal of Inherited Metabolic Disease - March 1, 2017 Category: Internal Medicine Source Type: research
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
ConclusionsMost T2-deficient patients achieved normal neurodevelopment. However, on account of the role of T2 in isoleucine catabolism, these patients are potentially exposed to accumulation of toxic isoleucine-derived metabolites, which may contribute to neurological impairment. Our findings confirm previous observations that neurological symptoms in T2 deficiency may occur unrelated to ketoacidosis. The role of protein restriction as a preventive measure against neurological symptoms could not be established in this study and deserves further evaluation. Long-term follow-up data on children diagnosed by newborn screening...
Source: Journal of Inherited Metabolic Disease - March 1, 2017 Category: Internal Medicine Source Type: research
Expanding the phenotype in argininosuccinic aciduria: need for new therapies
ConclusionsOur study further defines the natural history of argininosuccinic aciduria and genotype –phenotype correlations. The neurological phenotype does not correlate with the severity of hyperammonaemia and plasma argininosuccinic acid levels. The disturbance in nitric oxide synthesis may be a contributor to the neurological disease. Clinical trials providing nitric oxide to the brain merit consideration. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - February 28, 2017 Category: Internal Medicine Source Type: research
Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency –studies on treatment effects and long-term outcomes in mouse models
AbstractVery-long-chain-acyl-CoA-dehydrogenase deficiency is the most common disorder of mitochondrial long-chain fatty acid (LCFA) oxidation, with an incidence of 1:50,000-1:100,000 in newborns. Catabolic situations contribute to the aggravation of symptoms and induce severe metabolic derangement. Treatment for VLCAD-deficiency includes avoidance of fasting and a long-chain fat-restricted and fat-modified diet in which LCFAs are fully or partially replaced by medium-chain triglycerides (MCT). The aim of this work was to investigate the outcome and the effects of long-term treatment in a mouse model of VLCAD-deficiency. Th...
Source: Journal of Inherited Metabolic Disease - February 27, 2017 Category: Internal Medicine Source Type: research
Role of miRNAs in human disease and inborn errors of metabolism
AbstractMicroRNAs (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 also exhibit tissue specificity, and their dysregulation is linked to the progression of pathology. Identifying disease associated miRNAs and their respectiv e targets provides novel molecular insight into disease, enabling the design of new therapeutic strategies. Notably, miRNAs are present in stab...
Source: Journal of Inherited Metabolic Disease - February 21, 2017 Category: Internal Medicine Source Type: research
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam
AbstractBeta-ketothiolase (T2) deficiency is an inherited disease of isoleucine and ketone body metabolism caused by mutations in theACAT1 gene. Between 2005 and 2016, a total of 41 patients with T2 deficiency were identified at a medical center in northern Vietnam, with an estimated incidence of one in 190,000 newborns. Most patients manifested ketoacidotic episodes of varying severity between 6 and 18 months of age. Remarkably, 28% of patients showed high blood glucose levels (up to 23.3 mmol/L). Ketoacidotic episodes recurred in 43% of patients. The age of onset, frequency of episodes, and identified genotype did not...
Source: Journal of Inherited Metabolic Disease - February 19, 2017 Category: Internal Medicine Source Type: research
Inborn errors of metabolism associated with psychosis: literature review and case –control study using exome data from 5090 adult individuals
AbstractA literature review was conducted, using the computerized “Online Mendelian Inheritance in Man” (OMIM) and PubMed, to identify inborn errors of metabolism (IEM) in which psychosis may be a predominant feature or the initial presenting symptom. Different combinations of the following keywords were searched using OMIM: “psychosis”, “schizophrenia” , or “hallucinations” and “metabolic”, “inborn error of metabolism”, “inborn errors of metabolism”, “biochemical genetics”, or “metabolic genetics”. The OMIM search generated 126 OMIM entries, 40 of which were well known IEM. After removi...
Source: Journal of Inherited Metabolic Disease - February 15, 2017 Category: Internal Medicine Source Type: research
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
ConclusionsWe therefore conclude that heterozygousUMPS-mutations can lead to mild and isolated orotic aciduria without clinical consequence. Partial UMPS-deficiency should be included in the differential diagnosis of mild orotic aciduria. The discovery of heterozygotes manifesting clinical symptoms such as hypotonia and developmental delay are likely due to ascertainment bias. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - February 14, 2017 Category: Internal Medicine Source Type: research
Erratum to: International Paediatric Mitochondrial Disease Scale
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - February 12, 2017 Category: Internal Medicine Source Type: research
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity
AbstractPatients with erythropoietic protoporphyria (EPP) have reduced activity of the enzyme ferrochelatase that catalyzes the insertion of iron into protoporphyrin IX (PPIX) to form heme. As the result of ferrochelatase deficiency, PPIX accumulates and causes severe photosensitivity. Among different patients, the concentration of PPIX varies considerably. In addition to photosensitivity, patients frequently exhibit low serum iron and a microcytic hypochromic anemia. The aims of this study were to (1) search for factors related to PPIX concentration in EPP, and (2) characterize anemia in EPP, i.e., whether it is the resul...
Source: Journal of Inherited Metabolic Disease - February 8, 2017 Category: Internal Medicine Source Type: research
Recent advances in liver transplantation for metabolic disease
AbstractThe indications and outcomes of liver transplantation for metabolic disease have been reviewed recently and this short review concentrates on recent developments and advances. Recently recognized metabolic causes of acute liver failure are reviewed and their implications for transplantation discussed. Newly described indications for liver transplantation in systemic metabolic diseases are described and an update is given on the role of auxiliary and domino liver transplantation. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - February 5, 2017 Category: Internal Medicine Source Type: research
Nenad Blau (ed.). Phenylketonuria and BH4 deficiencies
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - February 5, 2017 Category: Internal Medicine Source Type: research
Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - February 2, 2017 Category: Internal Medicine Source Type: research
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitus
AbstractThe Native American Pima population has the highest incidence of insulin resistance (IR) and type 2 diabetes mellitus (T2DM) of any reported population, but the pathophysiologic mechanism is unknown. Genetic studies in Pima Indians have linked acyl-CoA dehydrogenase 10 (ACAD10) gene polymorphisms, among others, to this predisposition. The gene codes for a protein with a C-terminus region that is structurally similar to members of a family of flavoenzymes —the acyl-CoA dehydrogenases (ACADs)—that catalyze α,β-dehydrogenation reactions, including the first step in mitochondrial FAO (FAO), and intermediary react...
Source: Journal of Inherited Metabolic Disease - January 23, 2017 Category: Internal Medicine Source Type: research
