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.

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias
ConclusionThis study demonstrates the potential role of FGF-21 as a biomarker for long-term complications in classical organic acidemias, attributed to mitochondrial dysfunction. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 29, 2018 Category: Internal Medicine Source Type: research

Molecular genetics of a cohort of 635 cases of phenylketonuria in a consanguineous population
AbstractPhenylketonuria (PKU) is an inborn error of amino acid metabolism caused by mutations in the phenylalanine hydroxylase (PAH) gene, characterized by intellectual deficit and neuropsychiatric complications in untreated patients with estimated frequency of about one in 10,000 to 15,000 live births.PAH deficiency can be detected by neonatal screening in nearly all cases with hyperphenylalaninemia on a heel prick blood spot. Molecular testing of thePAH gene can then be performed in affected family members. Herein, we report molecular study of 635 patients genetically diagnosed with PKU from all ethnicities in Iran. The ...
Source: Journal of Inherited Metabolic Disease - August 29, 2018 Category: Internal Medicine Source Type: research

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study
In conclusion, we characterized the French cohort of late-onset PD patients through a nationwide study covering more than 40 years. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 28, 2018 Category: Internal Medicine Source Type: research

Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review
ConclusionThis review provided a broader panoramic view of the outcomes related to mucopolysaccharidosis type VI. Regardless of the inherent limitations of observational studies, the outcomes indicate that the enzyme replacement therapy has a positive effect on most of the outcomes associated to the disease. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 22, 2018 Category: Internal Medicine Source Type: research

Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
AbstractNeurotransmitter diseases are a well-defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help develop therapeutical strategies. The clinical relevance of the presynapse in inherited metabolic disorders is in glaring contrast with that of the postsynaptic component, which so far does not seem to play a relevant role in these disorders. This is somewhat surprising, as postsynaptic proteins are known to be involved in many nervous system di...
Source: Journal of Inherited Metabolic Disease - August 21, 2018 Category: Internal Medicine Source Type: research

Allogeneic haematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophy
AbstractThe adult cerebral form of X-linked adrenoleukodystrophy (ACALD), an acute inflammatory demyelinating disease, results in a rapidly progressive neurodegeneration, typically leading to severe disability or death within a few years after onset. We have treated 15 men who had developed ACALD with allogeneic haematopoietic stem cell transplantation (HSCT) from matched donors after myeloablative conditioning with busulfan and cyclophosphamide. All patients engrafted and 11 survived (estimated survival 73  ± 11%), eight with stable cognition and seven of them with stable motor function (estimated event-free survival...
Source: Journal of Inherited Metabolic Disease - August 21, 2018 Category: Internal Medicine Source Type: research

Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model
ConclusionOur data demonstrated that disulfiram enhanced the delivery of orally administered copper into the central nervous system in MD model mice. The administration of disulfiram will enable patients to avoid unpleasant subcutaneous copper injection in the future. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 21, 2018 Category: Internal Medicine Source Type: research

Index of Authors
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 20, 2018 Category: Internal Medicine Source Type: research

Oral Presentations
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 20, 2018 Category: Internal Medicine Source Type: research

Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure
ConclusionsCraniosynostosis occurs in the majority of MPS patients. Since the clinical consequences can be severe and surgical intervention is possible, skull growth and signs and symptoms of increased ICP should be monitored in both neuronopathic and non-neuronopathic patients with MPS. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 6, 2018 Category: Internal Medicine Source Type: research

Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa
AbstractPreliminary data suggest a positive effect of taliglucerase alfa on the bone marrow infiltration of Gaucher cells. In this investigator-initiated study, we report the impact of taliglucerase alfa on the bone marrow fat fraction (FF) in 26 patients assessed by quantitative chemical shift imaging (QCSI). Of 15 treatment-na ïve patients (median age 48 [range 24–68] years), eight had baseline FF ≤ 0.3, six of those with a FF ≤ 0.23 (‘bone at risk’). All significantly improved from a median baseline FF of 0.24 (0.15–0.32) to 1st year FF of 0.37 (0.25–0.54) and 2nd year FF of 0.42 (0.27–0.59) (pâ...
Source: Journal of Inherited Metabolic Disease - July 31, 2018 Category: Internal Medicine Source Type: research

Correction to: Medical and financial burden of acute intermittent porphyria
Due to a typesetting error the wrong figure 2 was used. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - July 27, 2018 Category: Internal Medicine Source Type: research

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy
This study adds 47 novel variants to the literature resulting in a total of 165 reported pathogenic variants. Based on this report, in silico predictions, and general population data, we estimate an incidence o f approximately 1:64,352 live births. This report provides a comprehensive overview of knownALDH7A1 mutations that cause PDE, and suggests that PDE may be more common than initially estimated. Due to the relative high frequency of the disease, the likelihood of under-diagnosis given the wide clinical spectrum and limited awareness among clinicians as well as the cognitive improvement noted with early treatment, newb...
Source: Journal of Inherited Metabolic Disease - July 24, 2018 Category: Internal Medicine Source Type: research

Long-term complications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy
ConclusionsHere, we show that the canine GSD Ia model demonstrates similar long-term complications as GSD Ia patients in spite of gene replacement therapy. Further development of gene therapy is needed to develop a more effective treatment to prevent long-term complications of GSD Ia. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - July 24, 2018 Category: Internal Medicine Source Type: research