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.

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
AbstractCongenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22  %), it can be debilitating or even life-threatening. Sixteen of the patients we collated here developed cirrhosis, 10 had live...
Source: Journal of Inherited Metabolic Disease - January 19, 2017 Category: Internal Medicine Source Type: research

Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes
ConclusionKetogenic diet was an effective and safe treatment for the majority of patients. Treatment effect was mainly determined by disease phenotype and attainment and maintenance of ketosis. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - January 17, 2017 Category: Internal Medicine Source Type: research

Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year University of Minnesota experience
ConclusionsHSCT has increased survival in MPS IH beyond the third decade of life and decreased the incidence of cardiac mortality, but deaths after the third year post-HSCT occur in excess of expected US mortality. It is important to determine if improved transplant strategies since 2004 result in better long-term survival in the current patient population. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - January 3, 2017 Category: Internal Medicine Source Type: research

Long-term outcome of expanded newborn screening at Boston children ’s hospital: benefits and challenges in defining true disease
ConclusionAlthough the NBS-identified and clinically-identified cohorts were not completely comparable, this long-term study shows likely substantial improvement overall in the outcome of these metabolic disorders in the NBS infants. Infants with mild disorders and benign variants may represent a significant number of infants identified by ENBS. The future challenge will be to unequivocally differentiate the disorders most benefitting from ENBS and adjust programs accordingly. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - January 3, 2017 Category: Internal Medicine Source Type: research

Is 2D speckle tracking echocardiography useful for detecting and monitoring myocardial dysfunction in adult m.3243A & gt;G carriers? — a retrospective pilot study
DiscussionEven in data collected as part of clinical care, two-dimensional strain echocardiography seems a feasible method to detect and monitor subtle changes in longitudinal myocardial deformation in adult carriers of the mitochondrial 3243A>G mutation. Based on our data and the reported accuracy of global longitudinal strain in other studies, we suggest the use of global longitudinal strain in a prospective follow-up or intervention study. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - January 3, 2017 Category: Internal Medicine Source Type: research

A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders
SummarySLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novelSLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2-weighted imaging and cerebral atrophy. CSF lactate was elevated in patient 1 and normal in patient 2. Respiratory chain enzymology was on...
Source: Journal of Inherited Metabolic Disease - December 18, 2016 Category: Internal Medicine Source Type: research

Small molecules as therapeutic agents for inborn errors of metabolism
AbstractMost inborn errors of metabolism (IEM) remain without effective treatment mainly due to the incapacity of conventional therapeutic approaches to target the neurological symptomatology and to ameliorate the multisystemic involvement frequently observed in these patients. However, in recent years, the therapeutic use of small molecules has emerged as a promising approach for treating this heterogeneous group of disorders. In this review, we focus on the use of therapeutically active small molecules to treat IEM, including readthrough agents, pharmacological chaperones, proteostasis regulators, substrate inhibitors, a...
Source: Journal of Inherited Metabolic Disease - December 12, 2016 Category: Internal Medicine Source Type: research

Jean-Marie Saudubray, Matthias R. Baumgartner, John Walter (Eds.). Inborn metabolic diseases: diagnosis and treatment
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - December 11, 2016 Category: Internal Medicine Source Type: research

Carla E. M. Hollak and Robin Lachmann (editors) Inherited metabolic disease in adults  - A clinical guide
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - December 11, 2016 Category: Internal Medicine Source Type: research

G. F. Hoffmann, J. Zschocke, W. Nyhan (eds): Inherited metabolic diseases. A clinical approach. Second edition
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - December 8, 2016 Category: Internal Medicine Source Type: research

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(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - November 30, 2016 Category: Internal Medicine Source Type: research

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
AbstractBackgroundRemethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.ObjectiveTo summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management.Data sourcesReview, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach.Key recommendationsWe strongly recommend measuring plasma total homocysteine in any patient...
Source: Journal of Inherited Metabolic Disease - November 29, 2016 Category: Internal Medicine Source Type: research

Guidelines on homocystinurias and methylation defects: a harmonized approach to diagnosis and management
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - November 27, 2016 Category: Internal Medicine Source Type: research

Analysis of the functional muscle –bone unit of the forearm in patients with phenylketonuria by peripheral quantitative computed tomography
In conclusion, the radial bone in PKU patients is characterized by reduced bone strength in relation to muscular force, decreased cortical thickness, and impaired total BMD at the metaphyseal site. These alterations indicate a mixed bone defect in PKU, both of which are due to primary alterations of bone metabolism and to secondary alterations in response to neuromuscular abnormalities. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - November 21, 2016 Category: Internal Medicine Source Type: research

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
AbstractClassical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. A systematic review of the literatu...
Source: Journal of Inherited Metabolic Disease - November 16, 2016 Category: Internal Medicine Source Type: research