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(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 21, 2017 Category: Internal Medicine Source Type: research

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
ConclusionWe have classified the final 54 diagnoses in 11 distinctive biochemical profiles and described them through 20 clinical features. To identify the specific molecular cause of abnormal NT profiles, (targeted) genomics might be used, to improve diagnosis and allow early treatment of complex and rare neurological genetic diseases. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 18, 2017 Category: Internal Medicine Source Type: research

Impaired fertility and motor function in a zebrafish model for classic galactosemia
In conclusion, ourgalt knockout zebrafish model for classic galactosemia mimics the human phenotype(s) at biochemical and clinical levels. Future studies in our model will contribute to improved understanding and management of this disorder. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 14, 2017 Category: Internal Medicine Source Type: research

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease
ConclusionAdults had increased levels of plasma leucine, consistent with greater chronic toxicity. Psychological care was associated with age and number of decompensations. In addition, parental involvement appeared to be crucial in the management of MSUD patients. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 13, 2017 Category: Internal Medicine Source Type: research

Critical appraisal of genotype assessment in molybdenum cofactor deficiency
We present an innovative approach for classification of genotype severity to test the hypothesis that milder sequence variants in MoCD result in a less severe disease phenotype quantitated by patient survival.MethodsAll available worldwide published cases with clinical and genetic data were included (n = 40). We stratified the already published disease causing sequence variants as mild or severe with the use ofin silico prediction programs, where possible and assessed the possible impact of the variants on the expression of the gene or function of the expressed protein. In a compound heterozygous situation the mildest se...
Source: Journal of Inherited Metabolic Disease - September 12, 2017 Category: Internal Medicine Source Type: research

Liver involvement in urea cycle disorders: a review of the literature
AbstractUrea cycle disorders (UCDs) are inborn errors of metabolism of the nitrogen detoxification pathway and encompass six principal enzymatic deficiencies. The aging of UCD patients leads to a better knowledge of the long-term natural history of the condition and to the reporting of previously unnoticed manifestations. Despite historical evidence of liver involvement in UCDs, little attention has been paid to this organ until recently. Hence, we reviewed the available scientific evidence on acute and chronic liver dysfunction and liver carcinogenesis in UCDs and discuss their pathophysiology. Overall, liver involvement,...
Source: Journal of Inherited Metabolic Disease - September 12, 2017 Category: Internal Medicine Source Type: research

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis
ConclusionsWe conclude that ASD is an early and probably underestimated frequent feature in CTX. Metabolic screening for CTX should be performed in patients with ASD when accompanied by diarrhea, intellectual disability, juvenile cataract, and/or neurological involvement. Early recognition allows for earlier initiation of specific treatment and will improve clinical outcome. Our results add CTX to the list of treatable IEMs associated with ASD. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 11, 2017 Category: Internal Medicine Source Type: research

Survival in idursulfase-treated and untreated patients with mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS)
AbstractMucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a life-limiting, multisystemic disease with varying presentation and severity. Enzyme replacement therapy with intravenous idursulfase (EC 3.1.6.13) has been available since 2006. Data from the Hunter Outcome Survey (July 2016) were used to compare survival in idursulfase-treated (n = 800) and untreated (n = 95) male patients followed prospectively in this multinational, observational registry. Median age at symptom onset was similar for the treated and untreated groups (1.6 and 1.5 years, respectively), as was median age at diagnosis (3.3...
Source: Journal of Inherited Metabolic Disease - September 8, 2017 Category: Internal Medicine Source Type: research

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial
ConclusionsC7 improved LV ejection fraction and reduced LV mass at rest, as well as lowering heart rate during exercise among patients with LC-FAODs.Clinical Trial Registration:Clinicaltrials.gov NCT01379625. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 4, 2017 Category: Internal Medicine Source Type: research

The presence of anaemia negatively influences survival in patients with POLG disease
ConclusionOur study reveals that anaemia can be a feature ofPOLG-related disease. Further, we show that its presence is associated with significantly worse prognosis either because anaemia itself is impacting survival or because it reflects the presence of more serious disease. In either case, our data suggests anaemia is a marker for negative prognosis. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - September 1, 2017 Category: Internal Medicine Source Type: research

Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients
AbstractLeigh syndrome (LS) is a progressive neurodegenerative disorder of infancy and early childhood. It is clinically diagnosed by typical manifestations and characteristic computed tomography (CT) or magnetic resonance imaging (MRI) studies. Unravelling mitochondrial respiratory chain (MRC) dysfunction behind LS is essential for deeper understanding of the disease, which may lead to the development of new therapies and cure. The aim of this study was to evaluate the clinical validity of various diagnostic tools in confirming MRC disorder in LS and Leigh-like syndrome (LL). The results of enzyme assays, molecular analys...
Source: Journal of Inherited Metabolic Disease - August 31, 2017 Category: Internal Medicine Source Type: research

A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndrome
AbstractMucopolysaccharidosis (MPS) type IIIA, or Sanfilippo syndrome, is a neurodegenerative lysosomal storage disorder caused by a deficiency of the lysosomal enzymeN-sulfoglucosamine sulfohydrolase (SGSH), involved in the catabolism of heparan sulfate. The clinical spectrum is broad and the age of symptom onset and the degree of preservation of cognitive and motor functions appears greatly influenced by genotype. To explore this further, we generated a conditional knockout (SgshKO) mouse model with ubiquitousSgsh deletion, and compared the clinical and pathological phenotype with that of the spontaneousSgshD31N MPS-IIIA...
Source: Journal of Inherited Metabolic Disease - August 31, 2017 Category: Internal Medicine Source Type: research

Risk factors for poor bone health in primary mitochondrial disease
ConclusionsThe prevalence of risk factors for poor bone health in primary mitochondrial disease is high. As part of supportive care, practitioners should address modifiable risk factors to optimize bone health, and have a low threshold to evaluate clinical symptoms that could suggest occult fragility fracture. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 31, 2017 Category: Internal Medicine Source Type: research

Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency
AbstractClinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7) –congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyr...
Source: Journal of Inherited Metabolic Disease - August 31, 2017 Category: Internal Medicine Source Type: research

Cataract and early nystagmus due to galactokinase deficiency
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - August 31, 2017 Category: Internal Medicine Source Type: research