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Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation
ConclusionThis study improves the knowledge on natural history of late-onset variants of FD, carrying major impact on clinical decisions and guidelines. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 15, 2020 Category: Genetics & Stem Cells Source Type: research

Molecular analysis of the human placental cysteine dioxygenase type 1 gene
We examined the relative abundance of the four CDO1 coding mRNA transcripts in human term placentas using qRT-PCR. CDO1 mRNA variant 2 was the most abundant transcript, with intermediate levels of variant 4 and lower levels of variants 1 and 3. Using in situ hybridization, we localised CDO1 mRNA expression to the syncytiotrophoblast layer of human term placenta. To investigate the regulation of CDO1 gene expression, we analysed the transcriptional activity of the human CDO1 5′-flanking region in the JEG-3 placental cell line using luciferase reporter assays. Transcriptional activities were identified in the regions −5 ...
Source: Molecular Genetics and Metabolism Reports - February 15, 2020 Category: Genetics & Stem Cells Source Type: research

Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study
ConclusionCounselling by a professional nutrionist in young adults with PKU has clear short-term effects on plasma Phe-levels. Easy applicable therapeutic recommendations, as additional intake of amino acid supplement, are well tolerated and result in strict therapy adherence up to 24 months. Apart from that, the effects on Phe-levels seem only to sustain for about 6 months. More frequent nutritional counselling, i.e. at least two times per year, is recommended to preserve positive effects on Phe-levels. Lack of Vitamin B12 and Vitamin D still are common in PKU patients, but not necessarily need to be substituted. They...
Source: Molecular Genetics and Metabolism Reports - February 15, 2020 Category: Genetics & Stem Cells Source Type: research

Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): J.B. Eisengart, K.E. King, E. Shapiro, C.B. Whitley, J. Muenzer (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 15, 2020 Category: Genetics & Stem Cells Source Type: research

Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease
Publication date: June 2020Source: Molecular Genetics and Metabolism Reports, Volume 23Author(s): Harrison N. Jones, Samuela Fernandes, William B. Hannah, Sujay Kansagra, Eileen M. Raynor, Priya S. Kishnani (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - February 15, 2020 Category: Genetics & Stem Cells Source Type: research

The N370S/R496H genotype in type 1 Gaucher disease – Natural history and implications for pre symptomatic diagnosis and counseling
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Natasha Zeid, Chanan Stauffer, Amy Yang, Hetanshi Naik, Luca Fierro, Jaya Ganesh, Manisha BalwaniAbstractType 1 Gaucher disease (GD1) patients with the N370S/R496H (N409S/R535H) genotype are increasingly identified through carrier and newborn screening panels. However, limited information is available on the phenotype associated with this genotype. Here, we report our experience with 14 patients with this genotype. Our data suggests that most patients with N370S/R496H present with mild manifestations and often do not require ...
Source: Molecular Genetics and Metabolism Reports - January 30, 2020 Category: Genetics & Stem Cells Source Type: research

Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family
We report here a family history of severe NAGS deficiency: after the index-case with severe hyperammonemia, one patient benefited from antenatal diagnosis, and from primary care at birth, another one was diagnosed at 2-days and immediately treated with carbaglumic-acid. Finally, we report excellent tolerance to long-term carbaglumic-acid treatment, with no side effects, and healthy neurological and psychomotor development. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 25, 2020 Category: Genetics & Stem Cells Source Type: research

ATAD3A variants manifest multisystematically in the brain, nerves, eyes, heart, liver, and skin
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Josef Finsterer, Rahim Aliyev (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 25, 2020 Category: Genetics & Stem Cells Source Type: research

Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Lucie Vu, Gerald F. Cox, Jennifer Ibrahim, M. Judith Peterschmitt, Leorah Ross, Nathan Thibault, Sandrine TurpaultAbstractEliglustat is an oral glucosylceramide synthase inhibitor indicated for the long-term treatment of adults with Gaucher disease type 1 and CYP2D6 extensive, intermediate, or poor metabolizer phenotypes. Eliglustat is metabolized primarily by CYP2D6 and to a lesser extent by CYP3A4 and is a substrate of P-glycoprotein (P-gp). Three studies evaluated the effects of paroxetine (strong CYP2D6 inhibitor), ketoco...
Source: Molecular Genetics and Metabolism Reports - January 22, 2020 Category: Genetics & Stem Cells Source Type: research

Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Nathan Grant (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 17, 2020 Category: Genetics & Stem Cells Source Type: research

Case-control study about the acceptance of Pegvaliase in Phenylketonuria
ConclusionPKU patients have reservations against an invasive subcutaneous treatment for their disease. This is mainly caused by the form of application by syringe and the potential harmful side effects. Only less than one-third of the patients in our cohort are willing to start treatment. Besides that, most PKU patients seem to have untapped potential for self-contained reduction of Phe-levels only by being focused on their diet. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 12, 2020 Category: Genetics & Stem Cells Source Type: research

Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients
We present a clinical-radiological report of seven unrelated patients with molecularly confirmed sialidosis type II. To the best of our knowledge, This is the largest reported series of patients with Sialidosis type II. A novel, previously unreported ophthalmic phenotype of bulls-eye maculopathy, is described. All seven phenotypically heterogeneous patients had the same pathogenic variant (c.679G > A; p.Gly227Arg) at a homozygous level in the NEU1 gene. We propose that this is a common mutation in north Indians for this rare disorder. We also observed an overlap of symptoms and a continuum of phenotypes in type I and II ...
Source: Molecular Genetics and Metabolism Reports - January 12, 2020 Category: Genetics & Stem Cells Source Type: research

Newborn screening for Fabry disease in the western region of Japan
In this report, we provide data from the first large-scale NBS program for FD in Japan. From August 2006 to December 2018, 599,711 newborns were screened; 26 variants, including 15 pathogenic variants and 11 variants of uncertain significance (VOUS; including eight novel variants), were detected in 57 newborns. Twenty-six male and 11 female newborns with pathogenic variants were diagnosed as hemizygous and heterozygous patients, respectively. Thirteen male and seven female newborns with VOUS were diagnosed as potential hemizygous and potential heterozygous patients, respectively. At the most recent follow up, three of 26 h...
Source: Molecular Genetics and Metabolism Reports - January 12, 2020 Category: Genetics & Stem Cells Source Type: research

Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS
This study analyzed 18,222 dried blood spot samples from newborns for both enzyme activity and glycosaminoglycan (GAG) concentration levels. GAG levels were measured using liquid chromatography tandem mass spectrometry. Results were compared to our previously established cutoff values for three subtypes of GAGs: dermatan sulfate (DS) and heparan sulfate (HS0S and HSNS). Samples that were high for two of the three GAGs were identified and screened a second time. Samples were also measured for iduronate-2-sulfatase and alfa-L-iduronidase activity.A total of 300 samples were above the established cutoff values for at least tw...
Source: Molecular Genetics and Metabolism Reports - January 10, 2020 Category: Genetics & Stem Cells Source Type: research

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report
Publication date: March 2020Source: Molecular Genetics and Metabolism Reports, Volume 22Author(s): Fran Rohr, Amy Kritzer, Cary O. Harding, Krista Viau, Harvey L. Levy (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - January 10, 2020 Category: Genetics & Stem Cells Source Type: research