Journal of Inherited Metabolic Disease 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.

Avascular necrosis after long-term glucocorticoid treatment in MELAS: a cautionary note
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - November 6, 2017 Category: Internal Medicine Source Type: research

A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome
ConclusionsWe cannot conclude that triheptanoin was effective in the treatment of APBD over a 6-month period, but we found it had a good safety profile. This study also emphasizes the difficulty of conducting trials in very rare diseases presenting with a wide clinical heterogeneity.ClinicalTrials.gov Identifier: NCT00947960. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - November 6, 2017 Category: Internal Medicine Source Type: research

Impairment of astrocytic glutaminolysis in glutaric aciduria type I
AbstractGlutaric aciduria type I is a rare, autosomal recessive, inherited defect of glutaryl-CoA dehydrogenase. Deficiency of this protein in L-lysine degradation leads to the characteristic accumulation of nontoxic glutarylcarnitine and neurotoxic glutaric acid (GA), glutaryl-CoA, and 3-hydroxyglutaric acid. Untreated patients develop bilateral lesions of basal ganglia resulting in a complex movement disorder with predominant dystonia in infancy and early childhood. The current pathomechanistic concept strongly focuses on imbalanced neuronal energy metabolism due to accumulating metabolites, whereas little is known about...
Source: Journal of Inherited Metabolic Disease - November 2, 2017 Category: Internal Medicine Source Type: research

Skin lesions in a patient with Cobalamin C disease in poor metabolic control
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - November 2, 2017 Category: Internal Medicine Source Type: research

The curse of idiopathic
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - October 27, 2017 Category: Internal Medicine Source Type: research

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study
AbstractQuality of life (QoL) is decreased in patients with Fabry disease (FD). To improve QoL, it is important to understand the influence of FD related characteristics, symptoms, and complications. In this retrospective cohort study we explored the effect of pain (measured by the Brief Pain Inventory), phenotype, treatment, and FD-related complications on QoL. QoL data of Fabry patients as assessed by the EuroQol five dimension questionnaire (EQ-5D) from two international centers of excellence were collected. The aim of this study was to evaluate the effect of sex, phenotype, age, different states of disease severity, pa...
Source: Journal of Inherited Metabolic Disease - October 16, 2017 Category: Internal Medicine Source Type: research

Lipoprotein-associated phospholipase A2 activity in obese adolescents with and without type 2 diabetes
AbstractLipoprotein-associated phospholipase A2 (Lp-PLA2) was identified as a strong predictor for cardiovascular events. Furthermore, it is highly associated with obesity. The role of Lp-PLA2 in diabetes mellitus is controversial and analyses, especially in adolescents with type 2 diabetes (T2D), are missing. Therefore, we compared Lp-PLA2 activity between two obese age-, sex-, and BMI-matched cohorts of adolescents with and without T2D. Relationships between Lp-PLA2 activity and age, BMI, hemoglobin A1c, lipids, and adipokines were evaluated. Lp-PLA2 activity was analyzed in serum of 72 obese adolescents without T2D (mea...
Source: Journal of Inherited Metabolic Disease - October 13, 2017 Category: Internal Medicine Source Type: research

Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency
AbstractCarnosinase (CN1) is a dipeptidase, encoded by theCNDP1 gene, that degrades histidine-containing dipeptides, such as carnosine, anserine and homocarnosine. Loss of CN1 function (also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency) has been reported in a small number of patients with highly elevated blood carnosine concentrations, denoted carnosinaemia; it is unclear whether the variety of clinical symptoms in these individuals is causally related to carnosinase deficiency. Reduced CN1 function should increase serum carnosine concentrations but the genetic basis of carnosinaemia has not ...
Source: Journal of Inherited Metabolic Disease - October 13, 2017 Category: Internal Medicine Source Type: research

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
ConclusionsWe found a favorable safety profile with respect to catheter placement, intraportal liver cell infusion, and immunosuppression. More than half of the children treated per protocol experienced metabolic stabilization and could be safely bridged to liver transplantation. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - October 12, 2017 Category: Internal Medicine Source Type: research

Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX)
AbstractCerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochrome P450CYP27A1 gene that result in production of a defective sterol 27-hydroxylase enzyme. CTX is associated with abnormally high levels of cholestanol in the blood and accumulation of cholestanol and cholesterol in the brain, tendon xanthomas, and bile. Hallmark clinical manifestations of CTX include chronic diarrhea, bilateral cataracts, tendon xanthomas, and neurologic dysfunction. Although CTX is a rare disorder, it is thought to be underdiagnosed, as presenting signs and symptom...
Source: Journal of Inherited Metabolic Disease - October 4, 2017 Category: Internal Medicine Source Type: research

Isolated sulfite oxidase deficiency
AbstractIsolated sulfite oxidase deficiency (ISOD) is a life-threatening, autosomal recessive disease characterized by severe neurological impairment. As no long-term effective treatment is available, distinction from other treatable diseases, such as molybdenum cofactor deficiency (MoCD) type A, should be made. We reviewed 47 patients (45 previously reported in the literature). Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, feeding difficulties, ectopia lentis, microcephaly), laboratory findings [urinary sulfite, S-sulfocysteine ...
Source: Journal of Inherited Metabolic Disease - October 4, 2017 Category: Internal Medicine Source Type: research

Isolated aortic root dilation in homocystinuria
ConclusionsA subset of patients with homocystinuria have isolated dilation of the aortic root similar to that observed in Marfan syndrome. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - October 4, 2017 Category: Internal Medicine Source Type: research

Erratum to: Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - October 4, 2017 Category: Internal Medicine Source Type: research

Metabolic pathways at the crossroads of diabetes and inborn errors
AbstractResearch over the past two decades has led to advances in our understanding of the genetic and metabolic factors that underlie the pathogenesis of type 2 diabetes mellitus (T2DM). While T2DM is defined by its hallmark metabolic symptoms, the genetic risk factors for T2DM are more immune-related than metabolism-related, and the observed metabolic disease may be secondary to chronic inflammation. Regardless, these metabolic changes are not benign, as the accumulation of some metabolic intermediates serves to further drive the inflammation and cell stress, eventually leading to insulin resistance and ultimately to T2D...
Source: Journal of Inherited Metabolic Disease - September 26, 2017 Category: Internal Medicine Source Type: research

Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 26, 2017 Category: Internal Medicine Source Type: research