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.

What is new in CDG?
AbstractCongenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in genetic diseases causing secondary hypoglycosylation. This review covers the human CDG highlights from the last 3  years (2014–2016) following a summary of the actual status of CDG. It expands on 23 novel CDG namely defects inSLC39A8, CAD, NANS, PGM3, SSR4, POGLUT1, NUS1, GANAB, PIGY, PIGW, PIGC, PIGG...
Source: Journal of Inherited Metabolic Disease - May 8, 2017 Category: Internal Medicine Source Type: research

Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases
AbstractLysosomal storage diseases (LSD) are inborn errors of metabolism resulting in multisystem disease. Central nervous system involvement, often with progressive neurodegeneration, accounts for a large portion of the morbidity and mortality seen in many LSD. Available treatments fail to prevent or correct neurologic symptoms and decline. Emerging evidence points to an important role for mitochondrial dysfunction in the pathogenesis and progression of LSD-associated neurodegeneration. Mitochondrial dysfunction in LSD is characterized by alterations in mitochondrial mass, morphology and function. Disturbed mitochondrial ...
Source: Journal of Inherited Metabolic Disease - May 5, 2017 Category: Internal Medicine Source Type: research

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye ’s syndrome
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 2, 2017 Category: Internal Medicine Source Type: research

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control
ConclusionsDifferences between GSD Ia patients reflect large clinical and biochemical heterogeneity. Heterogeneity between GSD Ia patients with homozygousG6PC mutations indicate an important role of theG6PC genotype/mutations. Differences between affected siblings suggest an additional role (genetic and/or environmental) of modifying factors defining the GSD Ia phenotype. CUSUM-analysis can facilitate single-patient monitoring of metabolic control and future application of this method may improve precision medicine for patients both with GSD and remaining inherited metabolic diseases. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - April 10, 2017 Category: Internal Medicine Source Type: research

Roscoe O. Brady, MD
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - April 7, 2017 Category: Internal Medicine Source Type: research

News and views
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - April 4, 2017 Category: Internal Medicine Source Type: research

Rescuing Canavan disease: engineering the wrong cell at the right time
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - April 3, 2017 Category: Internal Medicine Source Type: research

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
ConclusionsOur study quantifies a progression of cerebellar atrophy in PMM2-CDG patients, particularly during the first decade of life, and suggests a simple and reliable measure, the MVRD, to monitor cerebellar atrophy. Quantitative measurement of MVRD and cerebellar volume are essential for correlation with phenotype and outcome, natural follow-up, and monitoring in view of potential therapies in children with PMM2-CDG. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - March 24, 2017 Category: Internal Medicine Source Type: research

MtDNA-maintenance defects: syndromes and genes
AbstractA large group of mitochondrial disorders, ranging from early-onset pediatric encephalopathic syndromes to late-onset myopathy with chronic progressive external ophthalmoplegia (CPEOs), are inherited as Mendelian disorders characterized by disturbed mitochondrial DNA (mtDNA) maintenance. These errors of nuclear-mitochondrial intergenomic signaling may lead to mtDNA depletion, accumulation of mtDNA multiple deletions, or both, in critical tissues. The genes involved encode proteins belonging to at least three pathways: mtDNA replication and maintenance, nucleotide supply and balance, and mitochondrial dynamics and qu...
Source: Journal of Inherited Metabolic Disease - March 20, 2017 Category: Internal Medicine Source Type: research

Neurocognitive profiles in MSUD school-age patients
AbstractMaple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive development has been reported historically, with developmental delays of varying degree. Currently, earlier diagnosis and improved management allow a better neurodevelopment, without requirement of special education. However, specific impairments can be observed, and so far, results of detailed neurocognitive assessments are not available. The aim of this study was to analyse neu...
Source: Journal of Inherited Metabolic Disease - March 20, 2017 Category: Internal Medicine Source Type: research

Enzyme replacement therapy and beyond —in memoriam Roscoe O. Brady, M.D. (1923–2016)
AbstractLysosomal storage disorders are strong candidates for the development of specific innovative therapies. The discovery of enzyme deficiencies is an important milestone in understanding the underlying cause of disease. Being able to replace the first missing enzyme in a lysosomal storage required three decades of dedicated research. Successful drug development for lysosomal storage disorders was fostered by the U.S. Orphan Drug Act. Various optimization strategies have the potential to overcome the current limitations of enzyme replacement therapies. In addition, substrate reduction therapies are an alternative appro...
Source: Journal of Inherited Metabolic Disease - March 16, 2017 Category: Internal Medicine Source Type: research

Common data elements for clinical research in mitochondrial disease: a National Institute for Neurological Disorders and Stroke project
ConclusionWe developed a comprehensive set of CDE recommendations, data definitions, case report forms (CRFs), and guidelines for use in Mito clinical research. The widespread use of CDEs is intended to enhance Mito clinical research endeavors, including natural history studies, clinical trial design, and data sharing. Ongoing international collaboration will facilitate regular review, updates and online publication of Mito CDEs, and support improved consistency of data collection and reporting. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - March 15, 2017 Category: Internal Medicine Source Type: research

Inherited disorders of transition metal metabolism: an update
AbstractElements with a biological role include six trace transition metals: manganese, iron, cobalt, copper, zinc and molybdenum. Transition metals participate in group transfer reactions such as glycosylation and phosphorylation and those that can transfer an electron by alternating between two redox states such as iron (3+/2+) and copper (2+/1+) are also very important in biological redox reactions including the reduction of molecular oxygen and the transport of oxygen. However, these trace metals are also potentially toxic, generating reactive oxygen species through Fenton chemistry. Recently, a role of trace metals in...
Source: Journal of Inherited Metabolic Disease - March 15, 2017 Category: Internal Medicine Source Type: research

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation
We examined the long-term survival and cardiopulmonary outcome in 54 children undergoing haematopoietic stem cell transplantation (HSCT) at the Royal Manchester Children ’s Hospital from 1985 to 2008. The median age at first HSCT was 15.1 months. Eighteen had graft failure and nine died after first HSCT. Of 18 patients with graft failure, 17 underwent second HSCT and the remaining one was lost to follow-up (LOF). Twelve were alive-and-engrafted after second HSCT. The overall survival at one year and 20-years was the same at 73.7%. Six children were followed up at the referral centers and excluded from cardiopulmonary end...
Source: Journal of Inherited Metabolic Disease - March 9, 2017 Category: Internal Medicine Source Type: research

NTCP deficiency and persistently raised bile salts: an adult case
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - March 9, 2017 Category: Internal Medicine Source Type: research