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Prescribing issues experienced by people living with phenylketonuria in the UK
DiscussionAccess to PKU dietary treatment is frequently disrupted for reasons relating to GP prescriptions and unreliable dispensing and delivery practices. These issues require immediate attention by UK health professionals in order to create a fairer and more efficient system for everyone. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 26, 2019 Category: Genetics & Stem Cells Source Type: research

Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders
ConclusionThe coupling interpretation of exome and transcriptome data enhances the performance of conventional exome analyses through the proper interpretation of intronic variants that are outside of the GT/AG splicing consensus sequences and also allows the reinterpretation of “missense” or “silent” substitutions that can indeed have drastic effects on splicing. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 24, 2019 Category: Genetics & Stem Cells Source Type: research

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency
ConclusionThis study revealed the genetic heterogeneity among Malaysian ASL patients. This study has also expanded the mutational spectrum of the ASL. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 24, 2019 Category: Genetics & Stem Cells Source Type: research

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Giulia Barcia, Zahra Assouline, Alessandra Pennisi, Julie Steffann, Nathalie Boddaert, Cyril Gitiaux, Agnès Rötig, Jean-Paul Bonnefont, Arnold Munnich (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 23, 2019 Category: Genetics & Stem Cells Source Type: research

Comment: Why are females with Fabry disease affected?
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Michael Beck, Timothy M. Cox (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 23, 2019 Category: Genetics & Stem Cells Source Type: research

Transition of patients with mucopolysaccharidosis from paediatric to adult care
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): C. Lampe, B. McNelly, A.K. Gevorkian, C.J. Hendriksz, T.V. Lobzhanidze, J. Pérez-López, K.M. Stepien, N.D. Vashakmadze, M. Del ToroAbstractMucopolysaccharidoses (MPS) are rare disorders associated with enzyme deficiencies, resulting in glycosaminoglycan (GAG) accumulation in multiple organ systems. As patients increasingly survive to adulthood, the need for a smooth transition into adult care is essential. Using case studies, we outline strategies and highlight the challenges of transition, illustrating practical solutio...
Source: Molecular Genetics and Metabolism Reports - October 22, 2019 Category: Genetics & Stem Cells Source Type: research

Neuronal ceroid lipofuscinosis in a German Shorthaired Pointer associated with a previously reported CLN8 nonsense variant
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Juyuan Guo, Gary S. Johnson, James Cook, Olivia K. Harris, Tendai Mhlanga-Mutangadura, Robert D. Schnabel, Cheryl A. Jensen, Martin L. KatzAbstractTwo littermate German Shorthaired Pointers, a male and a female, were adopted as puppies from an animal shelter. Both puppies developed normally until approximately 11 months of age when the male began to exhibit neurological signs including ataxia, vision loss, and behavioral changes indicative of cognitive decline. These signs increased in severity over time. The female rema...
Source: Molecular Genetics and Metabolism Reports - October 22, 2019 Category: Genetics & Stem Cells Source Type: research

Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Amy Kritzer, Aishwarya Siddharth, Kate Leestma, Olaf BodamerAbstractFabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available enzyme replacement therapies have demonstrated efficacy at significantly reducing elevated biomarkers associated with increased disease activity, while improving the clinical symptoms associated with Fabry disease. In two cases with classical Fabry disease, we demonstrate that the initiation of enzy...
Source: Molecular Genetics and Metabolism Reports - October 19, 2019 Category: Genetics & Stem Cells Source Type: research

The financial and time burden associated with phenylketonuria treatment in the United States
ConclusionTreatment for PKU incurs a substantial time and cost burden on persons with PKU and their families. Estimated medical expenditures using claims data varied by age group, but sapropterin represented the largest cost for PKU treatment from a payer perspective across age groups. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 16, 2019 Category: Genetics & Stem Cells Source Type: research

Response: Late-onset Pompe disease manifests in the brain
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Ilka Schneider, Ole Hensel, Stephan Zierz (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 16, 2019 Category: Genetics & Stem Cells Source Type: research

Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Remi Stevelink, Faith Pangilinan, Floor E. Jansen, Kees P.J. Braun, International League Against Epilepsy Consortium on Complex Epilepsies, Anne M. Molloy, Lawrence C. Brody, Bobby P.C. KoelemanAbstractAltered vitamin B6 metabolism due to pathogenic variants in the gene PNPO causes early onset epileptic encephalopathy, which can be treated with high doses of vitamin B6. We recently reported that single nucleotide polymorphisms (SNPs) that influence PNPO expression in the brain are associated with genetic generalized epilep...
Source: Molecular Genetics and Metabolism Reports - October 12, 2019 Category: Genetics & Stem Cells Source Type: research

Clinical and genetic aspects of mild hypophosphatasia in Japanese patients
DiscussionOne of the characteristic findings of this present study was a high prevalence of coexisting asthma and a high level serum IgE level. These characteristics may account for the fragility of tracheal tissues and a predisposition to asthma in patients with mild HPP. The genotypes of the five mild HPP patients in our present study series included 1) compound heterozygous for severe and hypomorphic mutations, and 2) dominant-negative mutations. All of these mutations were at the homodimer interface, but only the dominant-negative mutation was predicted to cause a severe collision effect between the side chains. This m...
Source: Molecular Genetics and Metabolism Reports - October 12, 2019 Category: Genetics & Stem Cells Source Type: research

Hypermethioninemia in Campania: Results from 10 years of newborn screening
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Guglielmo R.D. Villani, Lucia Albano, Marianna Caterino, Daniela Crisci, Silvia Di Tommaso, Simona Fecarotta, Maria Grazia Fisco, Giulia Frisso, Giovanna Gallo, Cristina Mazzaccara, Emanuela Marchese, Antonio Nolano, Giancarlo Parenti, Rita Pecce, Adriana Redi, Francesco Salvatore, Pietro Strisciuglio, Maria Grazia Turturo, Fabiana Vallone, Margherita RuoppoloAbstractIn the last years tandem mass spectrometry (MS/MS) has become a leading technology used for neonatal screening purposes. Newborn screening by MS/MS on dried b...
Source: Molecular Genetics and Metabolism Reports - October 12, 2019 Category: Genetics & Stem Cells Source Type: research

Molecular based newborn screening in Germany: Follow-up for cystinosis
ConclusionsThis pilot study demonstrates the efficacy of a molecular-based neonatal screening program for cystinosis using an existing national screening framework. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 18, 2019 Category: Genetics & Stem Cells Source Type: research

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up
This report reviews what is known regarding MLASA1 and describes two brothers with MLASA1 who were cared for over the course of 10 years at the University of California Los Angeles. The brothers suffered from chronic anemia, transfusion dependency and muscle wasting that lead to respiratory insufficiency and death in one of the brothers. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - September 17, 2019 Category: Genetics & Stem Cells Source Type: research