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.

Role of continuous glucose monitoring in the management of glycogen storage disorders
This study revealed that in addition to overnight hypoglycemia, CGMS can uncover previously undetected, subclinical, low glucose levels during daytime hours. Additionally, the CGMS detected daytime and overnight hyperglycemia, an often overlooked concern in liver GSDs. The CGMS with concurrent dietary adjustments made by a metabolic dietitian improved metabolic parameters and stabilized blood glucose levels. The CGMS was found to be a safe, effective, an d reliable method for optimizing treatment in patients with GSD I, III, and IX. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 25, 2018 Category: Internal Medicine Source Type: research

Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia
ConclusionrAAV-GPE-hG6PC treatment in GSD-Ia dogs was found to be safe and efficacious. GSD-Ia is an attractive target for human gene therapy since it is a monogenic disorder with limited tissue involvement. Blood glucose and lactate monitoring can be used to assess effectiveness and as a biomarker of success. GSD-Ia can also serve as a model for other hepatic monogenic disorders. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 25, 2018 Category: Internal Medicine Source Type: research

Inborn errors of coenzyme A metabolism and neurodegeneration
AbstractTwo inborn errors of coenzyme A (CoA) metabolism are responsible for distinct forms of neurodegeneration with brain iron accumulation (NBIA), a heterogeneous group of neurodegenerative diseases having as a common denominator iron accumulation mainly in the inner portion of globus pallidus. Pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA and is caused by mutations in the pantothenate kinase 2 gene (PANK2), coding for a mitochondrial enzyme, which phosphorylates vitamin B5 in the fir...
Source: Journal of Inherited Metabolic Disease - May 16, 2018 Category: Internal Medicine Source Type: research

The cholic acid extension study in Zellweger spectrum disorders: results and implications for therapy
ConclusionsAlthough CA treatment did lead to reduced levels of toxic C27-bile acid intermediates in ZSD patients without severe liver fibrosis or cirrhosis, no improvement of clinically relevant parameters was observed after 21  months of treatment. We discuss the implications for CA therapy in ZSD based on these results. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 15, 2018 Category: Internal Medicine Source Type: research

Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease
In conclusion, our findings in plasma of patients with MSUD suggest that inflammation may play an important role in the pathogenesis of MSUD, although this process is not directly associated with BCAA blood levels. Ov erall, data reported here are consistent with the working hypothesis that inflammation may be involved in the pathophysiological mechanism underlying the brain damage observed in MSUD patients. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 8, 2018 Category: Internal Medicine Source Type: research

Sirtuin signaling controls mitochondrial function in glycogen storage disease type Ia
AbstractGlycogen storage disease type Ia (GSD-Ia) deficient in glucose-6-phosphatase- α (G6Pase-α) is a metabolic disorder characterized by impaired glucose homeostasis and a long-term complication of hepatocellular adenoma/carcinoma (HCA/HCC). Mitochondrial dysfunction has been implicated in GSD-Ia but the underlying mechanism and its contribution to HCA/HCC development remain unc lear. We have shown that hepatic G6Pase-α deficiency leads to downregulation of sirtuin 1 (SIRT1) signaling that underlies defective hepatic autophagy in GSD-Ia. SIRT1 is a NAD+-dependent deacetylase that can deacetylate and activate peroxiso...
Source: Journal of Inherited Metabolic Disease - May 8, 2018 Category: Internal Medicine Source Type: research

Acknowledgement to Referees
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 7, 2018 Category: Internal Medicine Source Type: research

In memoriam
(Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 7, 2018 Category: Internal Medicine Source Type: research

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis
ConclusionsPatients treated with velmanase alfa experienced improvements in biochemical and functional measures that were maintained for up to 4  years. Long term follow-up is important and further supports the use of velmanase alfa as an effective and well-tolerated treatment for AM. Based on the currently available data set, no baseline characteristic can be predictive of treatment outcome. Early treatment during paediatric age showed bet ter outcome in functional endpoints. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 3, 2018 Category: Internal Medicine Source Type: research

Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1
ConclusionsInsidious-onset type GA1 is characterized by dorsolateral putaminal lesions, less severe dystonia, and an asymptomatic latency phase, despite already existing lesions. Initially normal MRI during the first months and deviations from guideline-recommended treatment in a large proportion of insidious-onset patients substantiate the protective effect of neonatally initiated treatment. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 2, 2018 Category: Internal Medicine Source Type: research

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients
AbstractBackgroundTransaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype –genotype correlation.MethodsWe performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D. In some patients, endocrine abnormalities have been found. To further evaluate these abnormalities, we performed biochemical investigations on bl...
Source: Journal of Inherited Metabolic Disease - May 2, 2018 Category: Internal Medicine Source Type: research

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review
AbstractMany inborn errors of metabolism (IEMs) are amenable to treatment; therefore, early diagnosis and treatment is imperative. Despite recent advances, the genetic basis of many metabolic phenotypes remains unknown. For discovery purposes, whole exome sequencing (WES) variant prioritization coupled with clinical and bioinformatics expertise is the primary method used to identify novel disease-causing variants; however, causation is often difficult to establish due to the number of plausible variants. Integrated analysis of untargeted metabolomics (UM) and WES or whole genome sequencing (WGS) data is a promising systema...
Source: Journal of Inherited Metabolic Disease - May 2, 2018 Category: Internal Medicine Source Type: research

Severe ichthyosis in MPDU1-CDG
We report on an infant with severe ichthyosis caused by MPDU1 mutations. The case illustrates that skin manifestations are an important feature of CDG syndromes. Therefore, metabolic investigations should be included in the workup of infantile ichthyosis disorders. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - May 2, 2018 Category: Internal Medicine Source Type: research

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia
AbstractClassic galactosemia (CG) is an inherited metabolic disorder that affects about 1 in 50,000 live births in the United States and many other countries. With the benefit of early detection by newborn screening and rapid dietary restriction of galactose, generally achieved by removing dairy from the diet, most affected infants are spared the acute and potentially lethal symptoms of disease. Despite early detection and life-long dietary intervention, however, most patients grow to experience a constellation of long-term complications that include premature ovarian insufficiency in the vast majority of girls and young w...
Source: Journal of Inherited Metabolic Disease - May 2, 2018 Category: Internal Medicine Source Type: research

Mucolipidosis type III, a series of adult patients
ConclusionsSevere skeletal abnormalities, resulting from abnormal bone development and severe progressive osteoarthritis, are the hallmark of MLIII, necessitating surgical orthopaedic interventions early in life. Future therapies for this disease should focus on improving cartilage and bone quality, preventing skeletal complications and improving mobility. (Source: Journal of Inherited Metabolic Disease)
Source: Journal of Inherited Metabolic Disease - April 27, 2018 Category: Internal Medicine Source Type: research