Molecular Genetics and Metabolism Reports Molecular Genetics and Metabolism Reports RSS feedThis 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.

Clinical picture and treatment effects in 5 patients with Methylmalonic aciduria related to MMAA mutations
ConclusionsPatients with a mutation in the MMAA gene are sensitive to treatment with hydroxocobalamine, but the inclusion of appropriate treatment does not protect against neurodevelopmental disorders and chronic kidney disease. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 8, 2020 Category: Genetics & Stem Cells Source Type: research

Liver involvement in patients with Gaucher disease types I and III
ConclusionsGD is a heterogeneous disease that causes different patterns of liver damage even during treatment. Although treatment improves the hepatocellular damage, it is associated with an increased rate of steatosis. This study highlights the importance of a follow-up of liver integrity in these patients. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 8, 2020 Category: Genetics & Stem Cells Source Type: research

Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young male
We report on the first case of a patient with comorbid cblC defect and MS.Case reportThis young male presented at the age of 14 with a relapsing-remitting neurological disorder associated with imaging alterations suggestive of MS. Treatment resulted in a partial clinical improvement with vanishing of white matter lesions. Later on, the emergence of unexpected clinical features led to a metabolic work-up, revealing a cobalamin intracellular defect. Genetic analysis disclosed a single variant in MMACHC (c.482G > A; p.Arg161Gln) and another splicing variant in PRDX1 (c.1-515G > T) that cause the silencing of the wild-type...
Source: Molecular Genetics and Metabolism Reports - January 8, 2020 Category: Genetics & Stem Cells Source Type: research

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): S. Pajares, R.M. López, L. Gort, A. Argudo-Ramírez, J.L. Marín, J.M. González de Aledo-Castillo, J. García-Villoria, J.A. Arranz, M. Del Toro, F. Tort, O. Ugarteburu, M.D. Casellas, R. Fernández, A. RibesAbstractShort-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism. ECHS1 deficiency has multiple manifestations, including Leigh syndrome early at birth or in childhood with poor prognosis, to cutis laxa, exe...
Source: Molecular Genetics and Metabolism Reports - January 3, 2020 Category: Genetics & Stem Cells Source Type: research

Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio
DiscussionExcretion values of amino acids not classically related to Hartnup disorder are frequently elevated in patients with Hartnup disorder, which may cause misdiagnosis as generalized aminoaciduria and preclusion from vitamin B3 treatment. Calculation of the HAA/OAA ratio improves diagnostic differentiation of Hartnup disorder from other aminoacidurias. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 28, 2019 Category: Genetics & Stem Cells Source Type: research

Impact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Juliette Janson, Gudrun Andersson, Lars Bergquist, Maria Eriksson, Joost H.A. FolgeringAbstractMucopolysaccharidosis III A (MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme sulfamidase. The disorder results in accumulation of heparan sulfate, lysosomal enlargement and cellular and organ dysfunction. Patients exhibit progressive neurodegeneration and behavioral problems and no treatment is currently available. Enzyme replacement therapy is explored as potential treatment strateg...
Source: Molecular Genetics and Metabolism Reports - December 28, 2019 Category: Genetics & Stem Cells Source Type: research

Gene interactions observed with the HDL-c blood lipid, intakes of protein, sugar and biotin in relation to circulating homocysteine concentrations in a group of black South Africans
ConclusionsThe Hcy–SNP associations are modulated by diet and open up the possibility of invoking dietary interventions to treat hyperhomocysteinemia. Future intervention trials should further explore the observed gene–diet and gene–blood lipid interactions. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 27, 2019 Category: Genetics & Stem Cells Source Type: research

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): J.B. Eisengart, K.E. King, E.G. Shapiro, C.B. Whitley, J. MuenzerAbstractIn neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress stemming from this complex and far-reaching array of symptoms, neither caregiver burden nor the neurobehavioral symptoms have been measured comprehensively. We delineated these neurobehavioral characteristics and their impact on the caregiver using multiple approaches. Methods: As part of the init...
Source: Molecular Genetics and Metabolism Reports - December 21, 2019 Category: Genetics & Stem Cells Source Type: research

Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia
ConclusionThis study discovered unreported mutant in Indonesia, namely Cd60 (GTG > GAG). (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 21, 2019 Category: Genetics & Stem Cells Source Type: research

Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
ConclusionCorrect diagnosis lead to early treatment and accurate management of patient. Biochemical screening of BD in symptomatic child is prerequisite to determine enzyme status however molecular confirmation is vital in differentiating individuals with profound biotinidase deficiency from partial biotinidase deficiency and also individuals' carriers. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 20, 2019 Category: Genetics & Stem Cells Source Type: research

Response to “MLASA1 is a poly-phenic but not a di-phenic condition”
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Jeremy Woods, Steven Cederbaum (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 5, 2019 Category: Genetics & Stem Cells Source Type: research

Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients
Conclusions: Depression, sleep disturbances and disability were under-recognized in FD patients. HAQ-DI revealed worse disability according to MSSI severity status. The lowest raw scores from the SF-36 questionnaire were for the domains general health perception and physical role functioning. Standardized assessments should be routine care and started as early as diagnosis of Fabry disease is made. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - December 2, 2019 Category: Genetics & Stem Cells Source Type: research

Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma
In this report, we identified tyrosinemia type II on whole-exome sequencing in a 7-year-old Syrian refugee that presented with PPK. Dietary therapy helped improve her overall symptoms. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 23, 2019 Category: Genetics & Stem Cells Source Type: research

Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1
ConclusionsThis is the first family with GD and this combination of variants which causes a phenotype remarkable for severe bone disease with no or mild hematological manifestations. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 23, 2019 Category: Genetics & Stem Cells Source Type: research

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Konstantina Fragaki, Annabelle Chaussenot, Valerie Serre, Cecile Acquaviva, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-FlucklingerAbstractAmong mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA), MT-ATP6 partly overlaps with MT-ATP8 making double mutations possible, yet extremely rarely reported principally in patients with cardiomyopathy. Here, we report a novel m.8561 C>T substitution in...
Source: Molecular Genetics and Metabolism Reports - November 22, 2019 Category: Genetics & Stem Cells Source Type: research