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A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
We describe a case of 5,10-methenyltetrahydrofolate synthetase (MTHFS) deficiency characterized by microcephaly, global developmental delay, epilepsy, and cerebral hypomyelination. Whole exome sequencing (WES) demonstrated homozygosity for the R74X mutation in the MTHFS gene. The patient had the unexpected finding of elevated cerebrospinal fluid (CSF) neopterin. The novel finding of macrocytic anemia in this patient may provide a clue to the diagnosis of this rare neurometabolic disorder. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 22, 2019 Category: Genetics & Stem Cells Source Type: research

Case reports of metabolic disorders from Nepal
ConclusionsGlucose 6 phosphate dehydrogenase deficiency, Wilson's disease and lysosomal disorders should be considered for early diagnosis through newborn screening along with the acknowledged disorders hypothyroidism and hemoglobinopathies in Nepal. Early intervention in these disorders can significantly reduce morbidity and mortality in infancy. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 20, 2019 Category: Genetics & Stem Cells Source Type: research

Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Felix-Julian Campos-Garcia, Oscar F. Chacon-Camacho, Silvina Contreras-Capetillo, Marisa Cruz-Aguilar, Carolina E. Medina-Escobedo, Claudia M. Moreno-Graciano, Agustín Rodas, Luz del Alba Herrera-Perez, Juan C. ZentenoAbstractBiallelic mutations of the GCDH gene result in Glutaric Aciduria type 1 (GA1; OMIM #231670), an uncommon autosomal recessive inborn error caused by the deficiency of glutaryl-CoA dehydrogenase (CCDH), a mitochondrial matrix protein involved in the degradation of l-lysine, L-hydroxylysine, and L-trypt...
Source: Molecular Genetics and Metabolism Reports - November 14, 2019 Category: Genetics & Stem Cells Source Type: research

Peculiarities of the m.3243A>G variant in MT-TL1 leave medicine unprecise
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Josef Finsterer (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 13, 2019 Category: Genetics & Stem Cells Source Type: research

A case of motor neuron involvement in Gaucher disease
We describe a case of a 33-year-old man with a previous diagnosis of type 3 GD who displayed a progressive weakening of the limbs followed by upper motor neuron involvement. A diagnosis of definite Amyotrophic Lateral Sclerosis was made. This is the first reported case of concurrent Gaucher disease and the ALS phenotype in the same patient. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 13, 2019 Category: Genetics & Stem Cells Source Type: research

MLASA1 is a poly-phenic but not a di-phenic condition
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Josef Finsterer (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 10, 2019 Category: Genetics & Stem Cells Source Type: research

Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study
ConclusionWMHMS can be an effective substitute treatment to achieve stable nocturnal glucose control in children younger than five years of age. A larger multicenter prospective study is recommended to establish stronger evidence of the efficacy and safety of using WMHMS in treatment of young children with GSDI. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 7, 2019 Category: Genetics & Stem Cells Source Type: research

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): William B. Hannah, Katherine J. Dempsey, Lori-Anne P. Schillaci, Michael Zacharias, Shawn E. McCandless, Anthony Wynshaw-Boris, Laura L. Konczal, Jirair K. BedoyanAbstractAlthough individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with emergent presentations of PA, one with metabolic decompensation and another with cardiogenic shock. PA can ...
Source: Molecular Genetics and Metabolism Reports - November 7, 2019 Category: Genetics & Stem Cells Source Type: research

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Giulia Barcia, Zahra Assouline, Alessandra Pennisi, Cyril Gitiaux, Manuel Schiff, Nathalie Boddaert, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 7, 2019 Category: Genetics & Stem Cells Source Type: research

Bi-directional Mendelian randomization of epithelial ovarian cancer and schizophrenia and uni-directional Mendelian randomization of schizophrenia on circulating 1- or 2-glycerophosphocholine metabolites
Publication date: December 2019Source: Molecular Genetics and Metabolism Reports, Volume 21Author(s): Charleen D. Adams, Susan L. NeuhausenAbstractMost women with epithelial ovarian cancer (EOC) present with late-stage disease. As a result, globally, EOC is responsible for>150,000 deaths a year. Thus, a better understanding of risk factors for developing EOC is crucial for earlier screening and detection to improve survival. To that effort, there have been suggestions that there is an association of schizophrenia and cancer, possibly because metabolic changes are a hallmark of both cancer and schizophrenia (SZ). Perturbed ...
Source: Molecular Genetics and Metabolism Reports - November 6, 2019 Category: Genetics & Stem Cells Source Type: research

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers
DiscussionSerum C14:1/C12:1 might be useful for differentiating patients with VLCADD from heterozygous carriers. Although serum C14:1/C2 was significantly useful for the detection of VLCADD, this marker could not distinguish the affected patients from carriers. C14:1/C12:1 might be optimal compared with the other markers. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 6, 2019 Category: Genetics & Stem Cells Source Type: research

Characterization of glycan substrates accumulating in GM1 Gangliosidosis
ConclusionsOur studies illustrate that GLB1 deficiency is not purely a ganglioside accumulation disorder, but instead a broad oligosaccharidosis that include representatives of many β-linked galactose containing glycans and glycoconjugates including glycolipids, N-linked glycans, and various O-linked glycans. Accounting for all β-galactosidase substrates that accumulate when this enzyme is deficient increases our understanding of this severe disorder by identifying metabolites that may drive certain aspects of the disease and may also serve as informative disease biomarkers to fully evaluate the efficacy of future therap...
Source: Molecular Genetics and Metabolism Reports - November 4, 2019 Category: Genetics & Stem Cells Source Type: research

First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child
We report the first Japanese case of maternal PKU treated with SD. The patient was administered SD at 10–20 mg/kg/day, which increased phenylalanine tolerance during the pregnancy and lactation. No adverse events occurred, and she delivered a healthy neonate. Normal growth and development of the child confirms the efficacy and safety of SD. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - November 3, 2019 Category: Genetics & Stem Cells Source Type: research

Asparagine synthetase deficiency: A novel case with an unusual molecular mechanism
We report the case of a girl with Asparagine synthetase deficiency, an autosomal recessive metabolic disorder characterized by severe microcephaly and epileptic encephalopathy secondary to pathogenic variants in the ASNS gene. Genetic explorations found a deletion of ASNS and a missense variant on the other allele detected respectively by array comparative genomic hybridization (CGH) and Sanger sequencing. Amino acid analysis provided a biochemical confirmation. Previous cases of Asparagine synthetase deficiency were diagnosed though exome Sequencing. The combination of several techniques (array CGH, sequencing, and bioche...
Source: Molecular Genetics and Metabolism Reports - November 3, 2019 Category: Genetics & Stem Cells Source Type: research

Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family
We present a family, in which all members over two generations presented with at least splenomegaly. Comprehensive clinical, biochemical and genetic workup was required to diagnose GD, which is caused by as many as four distinct GBA genotypes. (Source: Molecular Genetics and Metabolism Reports)
Source: Molecular Genetics and Metabolism Reports - October 27, 2019 Category: Genetics & Stem Cells Source Type: research