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https://www.readbyqxmd.com/read/28429309/%C3%AE-ketoadipic-acid-and-%C3%AE-aminoadipic-acid-cause-disturbance-of-glutamatergic-neurotransmission-and-induction-of-oxidative-stress-in-vitro-in-brain-of-adolescent-rats
#1
Janaína Camacho da Silva, Alexandre Umpierrez Amaral, Cristiane Cecatto, Alessandro Wajner, Kálita Dos Santos Godoy, Rafael Teixeira Ribeiro, Aline de Mello Gonçalves, Ângela Zanatta, Mateus Struecker da Rosa, Samanta Oliveira Loureiro, Carmen Regla Vargas, Guilhian Leipnitz, Diogo Onofre Gomes de Souza, Moacir Wajner
Tissue accumulation of α-ketoadipic (KAA) and α-aminoadipic (AAA) acids is the biochemical hallmark of α-ketoadipic aciduria. This inborn error of metabolism is currently considered a biochemical phenotype with uncertain clinical significance. Considering that KAA and AAA are structurally similar to α-ketoglutarate and glutamate, respectively, we investigated the in vitro effects of these compounds on glutamatergic neurotransmission in the brain of adolescent rats. Bioenergetics and redox homeostasis were also investigated because they represent fundamental systems for brain development and functioning...
April 20, 2017: Neurotoxicity Research
https://www.readbyqxmd.com/read/28429308/chronic-candidiasis-in-children
#2
REVIEW
Laura Green, William K Dolen
PURPOSE OF REVIEW: Healthy children may develop candidal infections as the result of exposure to antibiotics or corticosteroids, but chronic candidiasis in children after the newborn period is unusual. Chronic mucocutaneous candidiasis (CMC) refers to a group of conditions characterized by recurrent or persistent infections with Candida species, particularly Candida albicans. CMC is a phenotype observed in a spectrum of immunologic disorders, some with endocrinologic and autoimmune features...
May 2017: Current Allergy and Asthma Reports
https://www.readbyqxmd.com/read/28425954/inherited-variation-in-vitamin-d-genes-and-type-1-diabetes-predisposition
#3
REVIEW
Marissa Penna-Martinez, Klaus Badenhoop
The etiology and pathophysiology of type 1 diabetes remain largely elusive with no established concepts for a causal therapy. Efforts to clarify genetic susceptibility and screening for environmental factors have identified the vitamin D system as a contributory pathway that is potentially correctable. This review aims at compiling all genetic studies addressing the vitamin D system in type 1 diabetes. Herein, association studies with case control cohorts are presented as well as family investigations with transmission tests, meta-analyses and intervention trials...
April 20, 2017: Genes
https://www.readbyqxmd.com/read/28425073/molecular-therapy-of-primary-hyperoxaluria
#4
Cristina Martin-Higueras, Armando Torres, Eduardo Salido
During the last few decades, the molecular understanding of the mechanisms involved in primary hyperoxalurias (PHs) has set the stage for novel therapeutic approaches. The availability of PH mouse models has facilitated preclinical studies testing innovative treatments. PHs are autosomal recessive diseases where the enzymatic deficit plays a central pathogenic role. Thus, molecular therapies aimed at restoring such deficit or limiting the consequences of the metabolic derangement could be envisioned, keeping in mind the specific challenges posed by the cell-autonomous nature of the deficiency...
April 19, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28424480/ketogenic-diet-attenuates-hepatopathy-in-mouse-model-of-respiratory-chain-complex-iii-deficiency-caused-by-a-bcs1l-mutation
#5
Janne Purhonen, Jayasimman Rajendran, Matthias Mörgelin, Kristiina Uusi-Rauva, Shintaro Katayama, Kaarel Krjutskov, Elisabet Einarsdottir, Vidya Velagapudi, Juha Kere, Matti Jauhiainen, Vineta Fellman, Jukka Kallijärvi
Mitochondrial disorders are among the most prevalent inborn errors of metabolism but largely lack treatments and have poor outcomes. High-fat, low-carbohydrate ketogenic diets (KDs) have shown beneficial effects in mouse models of mitochondrial myopathies, with induction of mitochondrial biogenesis as the suggested main mechanism. We fed KD to mice with respiratory chain complex III (CIII) deficiency and progressive hepatopathy due to mutated BCS1L, a CIII assembly factor. The mutant mice became persistently ketotic and tolerated the KD for up to 11 weeks...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28417071/twenty-novel-mutations-in-bckdha-bckdhb-and-dbt-genes-in-a-cohort-of-52-saudi-arabian-patients-with-maple-syrup-urine-disease
#6
Faiqa Imtiaz, Abeer Al-Mostafa, Rabab Allam, Khushnooda Ramzan, Nada Al-Tassan, Asma I Tahir, Nouf S Al-Numair, Mohamed H Al-Hamed, Zuhair Al-Hassnan, Mohammad Al-Owain, Hamad Al-Zaidan, Mohammad Al-Amoudi, Alya Qari, Ameera Balobaid, Moeenaldeen Al-Sayed
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutation analysis of three of the four genes encoding the BCKD complex in 52 biochemically diagnosed MSUD patients originating from Saudi Arabia. The 25 mutations (20 novel) detected spanned across the entire coding regions of the BCKHDA, BCKDHB and DBT genes...
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28416785/a-novel-mutation-in-the-glycine-decarboxylase-gene-in-patient-with-non-ketotic-hyperglycinemia
#7
Engin Kose, Uluc Yis, Semra Hiz, Nur Arslan
Non-ketotic hyperglycinemia (NKH) is a rare inborn error of metabolism and is caused by a glycine cleavage system deficiency. Eighty-five percent of patients present with the neonatal type of NKH, the infants initially develop lethargy, seizures, and episodes of apnea, and most often death. Between 60-90% of cases are caused by mutations in the glycine decarboxylase (GLDC). We believed that more mutation reports especially for rare disease as NKH help to evaluate the genotype-phenotype relationship in patients with GLDC...
April 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28414293/inherited-gins1-deficiency-underlies-growth-retardation-along-with-neutropenia-and-nk-cell-deficiency
#8
Julien Cottineau, Molly C Kottemann, Francis P Lach, Young-Hoon Kang, Frédéric Vély, Elissa K Deenick, Tomi Lazarov, Laure Gineau, Yi Wang, Andrea Farina, Marie Chansel, Lazaro Lorenzo, Christelle Piperoglou, Cindy S Ma, Patrick Nitschke, Aziz Belkadi, Yuval Itan, Bertrand Boisson, Fabienne Jabot-Hanin, Capucine Picard, Jacinta Bustamante, Céline Eidenschenk, Soraya Boucherit, Nathalie Aladjidi, Didier Lacombe, Pascal Barat, Waseem Qasim, Jane A Hurst, Andrew J Pollard, Holm H Uhlig, Claire Fieschi, Jean Michon, Vladimir P Bermudez, Laurent Abel, Jean-Pierre de Villartay, Frédéric Geissmann, Stuart G Tangye, Jerard Hurwitz, Eric Vivier, Jean-Laurent Casanova, Agata Smogorzewska, Emmanuelle Jouanguy
Inborn errors of DNA repair or replication underlie a variety of clinical phenotypes. We studied 5 patients from 4 kindreds, all of whom displayed intrauterine growth retardation, chronic neutropenia, and NK cell deficiency. Four of the 5 patients also had postnatal growth retardation. The association of neutropenia and NK cell deficiency, which is unusual among primary immunodeficiencies and bone marrow failures, was due to a blockade in the bone marrow and was mildly symptomatic. We discovered compound heterozygous rare mutations in Go-Ichi-Ni-San (GINS) complex subunit 1 (GINS1, also known as PSF1) in the 5 patients...
April 17, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28412083/elucidation-of-the-complex-metabolic-profile-of-cerebrospinal-fluid-using-an-untargeted-biochemical-profiling-assay
#9
Adam D Kennedy, Kirk L Pappan, Taraka R Donti, Anne M Evans, Jacob E Wulff, Luke A D Miller, V Reid Sutton, Qin Sun, Marcus J Miller, Sarah H Elsea
We sought to determine the molecular composition of human cerebrospinal fluid (CSF) and identify the biochemical pathways represented in CSF to understand the potential for untargeted screening of inborn errors of metabolism (IEMs). Biochemical profiles for each sample were obtained using an integrated metabolomics workflow comprised of four chromatographic techniques followed by mass spectrometry. Secondarily, we wanted to compare the biochemical profile of CSF with those of plasma and urine within the integrated mass spectrometric-based metabolomic workflow...
April 9, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28410607/aprecisekure-an-approach-of-precision-medicine-in-a-rare-disease
#10
Ottavia Spiga, Vittoria Cicaloni, Andrea Bernini, Andrea Zatkova, Annalisa Santucci
BACKGROUND: Alkaptonuria (AKU; OMIM:203500) is a classic Mendelian genetic disorder described by Garrod already in 1902. It causes urine to turn black upon exposure to air and also leads to ochronosis as well as early osteoarthritis. Our objective is the implementation of a Precision Medicine (PM) approach to AKU. We present here a novel ApreciseKUre database facilitating the collection, integration and analysis of patient data in order to create an AKU-dedicated "PM Ecosystem" in which genetic, biochemical and clinical resources can be shared among registered researchers...
April 14, 2017: BMC Medical Informatics and Decision Making
https://www.readbyqxmd.com/read/28409271/unique-presentation-of-cutis-laxa-with-leigh-like-syndrome-due-to-echs1-deficiency
#11
S Balasubramaniam, L G Riley, D Bratkovic, D Ketteridge, N Manton, M J Cowley, V Gayevskiy, T Roscioli, M Mohamed, T Gardeitchik, E Morava, J Christodoulou
Clinical finding of cutis laxa, characterized by wrinkled, redundant, sagging, nonelastic skin, is of growing significance due to its occurrence in several different inborn errors of metabolism (IEM). Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade...
April 13, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28402605/biotin-thiamine-responsive-basal-ganglia-disease-identification-of-a-pyruvate-peak-on-brain-spectroscopy-novel-mutation-in-slc19a3-and-calculation-of-prevalence-based-on-allele-frequencies-from-aggregated-next-generation-sequencing-data
#12
Carlos R Ferreira, Matthew T Whitehead, Eyby Leon
Biotin-thiamine responsive basal ganglia disease is an inborn error of metabolism caused by mutations in SLC19A3, encoding a transporter of thiamine across the plasma membrane. We report a novel mutation identified in the homozygous state in a patient with typical brain MRI changes. In addition, this patient had markedly elevated CSF pyruvate, a low lactate-to-pyruvate molar ratio, and an abnormal pyruvate peak at 2.4 ppm on brain magnetic resonance spectroscopy. Using aggregated exome sequencing data, we calculate the carrier frequency of mutations in SLC19A3 as 1 in 232 individuals in the general population, for an estimated prevalence of the disease of approximately 1 in 215,000 individuals...
April 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28399928/australian-children-living-with-rare-diseases-experiences-of-diagnosis-and-perceived-consequences-of-diagnostic-delays
#13
Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard, Elizabeth J Elliott
BACKGROUND: Children and families living with rare disease often experience significant health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be constant, regardless of the specific rare disease diagnosis. Systematically collected Australian data to support policy response on rare diseases are scarce. We address this gap by providing survey results about 462 children aged <19 years living with approximately 200 different rare diseases. RESULTS: Of 462 children, 96% were born in Australia, 55% were male, median age was 8...
April 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28396157/coupled-brain-and-urine-spectroscopy-in-vivo-metabolomic-characterization-of-hmg-coa-lyase-deficiency-in-5-patients
#14
Dominique Roland, Patrice Jissendi-Tchofo, Gilbert Briand, Joseph Vamecq, Monique Fontaine, Vincent Ultré, Cécile Acquaviva-Bourdain, Karine Mention, Dries Dobbelaere
BACKGROUND: 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of leucine metabolism and ketogenesis. Despite recurrent hypoglycemia and metabolic decompensations, most patients have a good clinical and neurological outcome contrasting with abnormal brain magnetic resonance imaging (MRI) signals and consistent abnormal brain proton magnetic resonance spectroscopy ((1)H-MRS) metabolite peaks. Identifying these metabolites could provide surrogate markers of the disease and improve understanding of MRI-clinical discrepancy and follow-up of affected patients...
March 30, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28392333/outcome-of-hematopoietic-cell-transplantation-for-dna-double-strand-breakage-repair-disorders
#15
James Slack, Michael H Albert, Dmitry Balashov, Bernd H Belohradsky, Alice Bertaina, Jack Bleesing, Claire Booth, Jochen Büchner, Rebecca H Buckley, Marie Ouachée-Chardin, Elena Deripapa, Katarzyna Drabko, Mary Eapen, Tobias Feuchtinger, Andrea Finocchi, H Bobby Gaspar, Sujal Ghosh, Alfred Gillio, Luis I Gonzalez-Granado, Eyal Grunebaum, Tayfun Güngör, Carsten Heilmann, Merja Helminen, Kohei Higuchi, Kohsuke Imai, Krzysztof Kalwak, Nubuo Kanazawa, Gülsün Karasu, Zeynep Y Kucuk, Alexandra Laberko, Andrzej Lange, Nizar Mahlaoui, Roland Meisel, D Moshous, Hideki Muramatsu, Suhag Parikh, Srdjan Pasic, Irene Schmid, Catharina Schuetz, Ansgar Schulz, Kirk R Schultz, Peter J Shaw, Mary A Slatter, Karl-Walter Sykora, Shinobu Tamura, Mervi Taskinen, Angela Wawer, Beata Wolska-Kus Nierz, Morton J Cowan, Alain Fischer, Andrew R Gennery
BACKGROUND: Rare DNA breakage-repair disorders predispose to infection and lympho-reticular malignancies. Hematopoietic cell transplantation (HCT) is curative but co-administered chemo- or radio-therapy is damaging due to systemic radio-sensitivity. We collected HCT outcome data for Nijmegen Breakage syndrome (NBS), DNA ligase IV deficiency (LIG4), Cernunnos-XLF deficiency and ataxia-telangiectasia. METHODS: Data from 38 centres worldwide, including indication, donor, conditioning regimen, graft-versus-host disease (GvHD) and outcome were analyzed...
April 6, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28388738/riboflavin-responsive-multiple-acyl-coa-dehydrogenase-deficiency-associated-with-hepatoencephalomyopathy-and-white-matter-signal-abnormalities-on-brain-mri
#16
Päivi Vieira, Päivi Myllynen, Marja Perhomaa, Hannu Tuominen, Riikka Keski-Filppula, Seppo Rytky, Leila Risteli, Johanna Uusimaa
Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting both fatty acid and amino acid oxidation. It can manifest at any age, but riboflavin-responsiveness has mainly been described in less severely affected patients. We describe an infant with severe MADD presenting with profound hypotonia and hepatomegaly. Treatment with riboflavin improved his muscle strength, liver size, and biochemical markers. A homozygous mutation of electron transfer flavoprotein dehydrogenase (ETFDH) was found...
April 7, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/28388428/a-drug-screen-using-human-ipsc-derived-hepatocyte-like-cells-reveals-cardiac-glycosides-as-a-potential-treatment-for-hypercholesterolemia
#17
Max A Cayo, Sunil K Mallanna, Francesca Di Furio, Ran Jing, Lauren B Tolliver, Matthew Bures, Amanda Urick, Fallon K Noto, Evanthia E Pashos, Matthew D Greseth, Maciej Czarnecki, Paula Traktman, Wenli Yang, Edward E Morrisey, Markus Grompe, Daniel J Rader, Stephen A Duncan
Efforts to identify pharmaceuticals to treat heritable metabolic liver diseases have been hampered by the lack of models. However, cells with hepatocyte characteristics can be produced from induced pluripotent stem cells (iPSCs). Here, we have used hepatocyte-like cells generated from homozygous familial hypercholesterolemia (hoFH) iPSCs to identify drugs that can potentially be repurposed to lower serum LDL-C. We found that cardiac glycosides reduce the production of apolipoprotein B (apoB) from human hepatocytes in culture and the serum of avatar mice harboring humanized livers...
April 6, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28387369/unexplained-early-infantile-epileptic-encephalopathy-in-han-chinese-children-next-generation-sequencing-and-phenotype-enriching
#18
Ahmed Arafat, Peng Jing, Yuping Ma, Miao Pu, Gai Nan, He Fang, Chen Chen, Yin Fei
Early Infantile Epileptic Encephalopathy (EIEE) presents shortly after birth with frequent, severe seizures and progressive disturbance of cerebral function. This study was to investigate a cohort of Chinese children with unexplained EIEE, infants with previous genetic diagnoses, causative brain malformations, or inborn errors of metabolism were excluded. We used targeted next-generation sequencing to identify potential pathogenic variants of 308 genes in 68 Han Chinese patients with unexplained EIEE. A filter process was performed to prioritize rare variants of potential functional significance...
April 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28386663/a-child-with-phenylketonuria-and-focal-segmental-glomerulosclerosis-the-bright-side-of-proteinuria
#19
Fatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari, Ibtisam B Elnour
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults...
April 7, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28382085/identification-of-a-novel-gla-mutation-l206-p-in-a-patient-with-fabry-disease
#20
Ji-Hoon Kim, Gee-Hee Kim, Hoon-Suk Park, Jin-A Choi, Jung-Min Bae, Uiju Cho
We report a new α-Galactosidase A (αGal-A) mutation in a 39-year-old Korean born, male Fabry disease patient. Fabry disease is a devastating, progressive inborn error of metabolism caused by X-linked genetic mutations. In this case, the first clinical symptom to occur was in childhood consisting of a burning pain originating in the extremities then radiating inwards to the limbs. This patient also stated to have ringing in his ears, angiokeratomas on his trunk, and cornea verticillata. He visited an outpatient cardiologist due to intermittent and atypical chest discomfort at the age of 39...
March 2017: Korean Circulation Journal
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