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https://www.readbyqxmd.com/read/28645531/new-protein-structures-provide-an-updated-understanding-of-phenylketonuria
#1
REVIEW
Eileen K Jaffe
Phenylketonuria (PKU) and less severe hyperphenylalaninemia (HPA) constitute the most common inborn error of amino acid metabolism, and is most often caused by defects in phenylalanine hydroxylase (PAH) function resulting in accumulation of Phe to neurotoxic levels. Despite the success of dietary intervention in preventing permanent neurological damage, individuals living with PKU clamor for additional non-dietary therapies. The bulk of disease-associated mutations are PAH missense variants, which occur throughout the entire 452 amino acid human PAH protein...
June 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28644047/mutational-analysis-of-galt-gene-in-greek-patients-with-galactosaemia-identification-of-two-novel-mutations-and-clinical-evaluation
#2
Kleopatra H Schulpis, Georgia Thodi, Konstantinos Iakovou, Maria Chatzidaki, Yannis Dotsikas, Elina Molou, Olga Triantafylli, Yannis L Loukas
Classical galactosaemia is an inborn error of metabolism due to the deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). The aim of the study was to identify the underlying mutations in Greek patients with GALT deficiency and evaluate their psychomotor and speech development. Patients with GALT deficiency (n = 17) were picked up through neonatal screening. Mutational analysis was conducted via Sanger sequencing, while in silico analysis was used in the cases of novel missense mutations...
June 23, 2017: Scandinavian Journal of Clinical and Laboratory Investigation
https://www.readbyqxmd.com/read/28643719/alkaptonuria-a-case-report
#3
Nirupama Damarla, Prathima Linga, Mallika Goyal, Sanjay Reddy Tadisina, G Satyanarayana Reddy, Hymavathi Bommisetti
Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ocular features in the retina is described.
June 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28641925/safety-pharmacokinetics-and-sialic-acid-production-after-oral-administration-of-n-acetylmannosamine-mannac-to-subjects-with-gne-myopathy
#4
Xin Xu, Amy Q Wang, Lea L Latham, Frank Celeste, Carla Ciccone, May Christine Malicdan, Barry Goldspiel, Pramod Terse, James Cradock, Nora Yang, Selwyn Yorke, John C McKew, William A Gahl, Marjan Huizing, Nuria Carrillo
GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism, caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase. The disease manifests as an adult-onset myopathy characterized by progressive skeletal muscle weakness and atrophy. There is no medical therapy available for this debilitating disease. Hyposialylation of muscle glycoproteins likely contributes to the pathophysiology of this disease. N-acetyl-D-mannosamine (ManNAc), an uncharged monosaccharide and the first committed precursor in the sialic acid biosynthetic pathway, is a therapeutic candidate that prevents muscle weakness in the mouse model of GNE myopathy...
April 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28635494/urea-cycle-disorder-misdiagnosed-as-multiple-sclerosis-a-case-report-and-review-of-the-literature
#5
Hussein Algahtani, Seham Alameer, Yousef Marzouk, Bader Shirah
Urea cycle disorders are a group of inborn errors of metabolism caused by dysfunction of any of the six enzymes or two transport proteins involved in urea biosynthesis. In this paper, we report a patient who presented with neurological dysfunction and coma in the immediate postpartum period. She was misdiagnosed for many years as a case of multiple sclerosis. The importance of reporting this case is to illustrate that the wrong diagnosis of patients as being affected with multiple sclerosis for many years due to magnetic resonance imaging abnormalities rather than the classic relapsing-remitting nature of the disease may lead to catastrophic consequences...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28629683/the-relationship-between-dietary-intake-growth-and-body-composition-in-inborn-errors-of-intermediary-protein-metabolism
#6
Maureen Evans, Helen Truby, Avihu Boneh
OBJECTIVES: To examine relationships between dietary intake, growth and body composition patterns in patients with inborn errors of intermediary protein metabolism and to determine a safe protein:energy ratio (P:E ratio) associated with optimal growth outcomes. STUDY DESIGN: Retrospective longitudinal data of growth and dietary intake in patients (n = 75) with isovaleric acidemia (IVA; n = 7), methylmalonic acidemia/propionic acidemia (MMA/PA; n = 14), urea cycle defects (UCD; n = 44), classical maple syrup urine disease (MSUD; n = 10) were collected...
June 16, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28606988/recurrent-rhinovirus-infections-in-a-child-with-inherited-mda5-deficiency
#7
Ian T Lamborn, Huie Jing, Yu Zhang, Scott B Drutman, Jordan K Abbott, Shirin Munir, Sangeeta Bade, Heardley M Murdock, Celia P Santos, Linda G Brock, Evan Masutani, Emmanuel Y Fordjour, Joshua J McElwee, Jason D Hughes, Dave P Nichols, Aziz Belkadi, Andrew J Oler, Corinne S Happel, Helen F Matthews, Laurent Abel, Peter L Collins, Kanta Subbarao, Erwin W Gelfand, Michael J Ciancanelli, Jean-Laurent Casanova, Helen C Su
MDA5 is a cytosolic sensor of double-stranded RNA (ds)RNA including viral byproducts and intermediates. We studied a child with life-threatening, recurrent respiratory tract infections, caused by viruses including human rhinovirus (HRV), influenza virus, and respiratory syncytial virus (RSV). We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5. Mutant MDA5 was expressed but did not recognize the synthetic MDA5 agonist/(ds)RNA mimic polyinosinic-polycytidylic acid. When overexpressed, mutant MDA5 failed to drive luciferase activity from the IFNB1 promoter or promoters containing ISRE or NF-κB sequence motifs...
June 12, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28601685/hematopoietic-stem-cell-transplantation-in-patients-with-gain-of-function-stat1-mutation
#8
Jennifer W Leiding, Satoshi Okada, David Hagin, Mario Abinun, Anna Shcherbina, Dmitry N Balashov, Vy H D Kim, Adi Ovadia, Stephen L Guthery, Michael Pulsipher, Desa Lilic, Lisa A Devlin, Sharon Christie, Mark Depner, Sebastian Fuchs, Annet van Royen-Kerkhof, Caroline Lindemans, Aleksandra Petrovic, Kathleen E Sullivan, Nancy Bunin, Sara Sebnem Kilic, Fikret Arpaci, Oscar de la Calle-Martin, Laura Martinez-Martinez, Juan Carlos Aldave, Masao Kobayashi, Teppei Ohkawa, Kohsuke Imai, Akihiro Iguchi, Chaim M Roifman, Andrew R Gennery, Mary Slatter, Hans D Ochs, Tomohiro Morio, Troy R Torgerson
BACKGROUND: Gain of function mutations in signal transducer and activator of transcription 1 (GOF-STAT1) cause a susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be mild or severe and life threatening. Hematopoietic stem cell transplantation (HSCT) has been utilized in some patients with more severe symptoms to treat and cure the disorder. The outcome of HSCT for this disorder is, however, not well established...
June 7, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28599708/quantification-of-metabolites-in-dried-blood-spots-by-direct-infusion-high-resolution-mass-spectrometry
#9
Monique G M de Sain-van der Velden, Maria van der Ham, Johan Gerrits, Hubertus C M T Prinsen, Marcel Willemsen, Mia L Pras-Raves, Judith J Jans, Nanda M Verhoeven-Duif
Diagnosis and treatment of inborn errors of metabolism (IEM) require the analysis of a variety of metabolites. These compounds are usually quantified by targeted platforms. High resolution mass spectrometry (HRMS) has the potential to detect hundreds to thousands of metabolites simultaneously. A chip-based nanoelectrospray source (chip-based nanoESI) enables the direct infusion of biological samples. Major advantages of this system include high sample throughput, no sample carryover, and low sample consumption...
August 1, 2017: Analytica Chimica Acta
https://www.readbyqxmd.com/read/28593892/neonatal-hypoglycemia-risk-factors-and-outcomes
#10
Orhideja Stomnaroska, Elizabeta Petkovska, Snezana Jancevska, Dragan Danilovski
BACKGROUND AND AIMS: Severe neonatal hypoglycemia (HG) leads to neurologic damage, mental retardation, epilepsy, personality disorders, impaired cardiac performance and muscle weakness. We aimed to assess the clinical characteristics of children with hypoglycemia in a random population of newborns. PATIENTS, METHODS AND RESULTS: We investigated 84 patients (M:F=35:48) born at the University Clinic for Gynecology and Obstetrics in Skopje (hospitalized in the NICU) who were found to have hypoglycemia...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28590052/clinical-report-a-patient-with-a-late-diagnosis-of-cerebrotendinous-xanthomatosis-and-a-response-to-treatment
#11
Ahmad Alhariri, Katherine Hamilton, Vikash Oza, Kelly Cordoro, Nara L Sobreira, Mary Malloy, Anne Slavotinek
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive, inborn error of bile acid metabolism characterized by diarrhea in infancy, juvenile cataracts in childhood, tendon xanthomas developing in the second to third decades of life, and progressive neurologic dysfunction in adulthood. The condition is caused by mutations in the CYP27A1 gene that result in decreased production of chenodeoxycholic acid (CDCA) and elevated levels of cholestanol and bile alcohols. We present a 36-year-old male of Han ethnicity who developed xanthomas of his Achilles tendons and suffered neurocognitive declines and gait deterioration in his second decade...
June 7, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28583327/3-hydroxy-3-methylglutaryl-coenzyme-a-lyase-deficiency-clinical-presentation-and-outcome-in-a-series-of-37-patients
#12
Sarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, Corinne Gemperle-Britschgi, Lenka Mrázová, Mehmet Cihan Balcı, Felix Bischof, Mahmut Çoker, Anibh M Das, Mübeccel Demirkol, Maaike de Vries, Gülden Gökçay, Johannes Häberle, Sema Kalkan Uçar, Amelie Sophia Lotz-Havla, Thomas Lücke, Dominique Roland, Frank Rutsch, René Santer, Andrea Schlune, Christian Staufner, Karl Otfried Schwab, Grant A Mitchell, Jörn Oliver Sass
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. In order to obtain a comprehensive view on this disease, we have collected clinical and biochemical data as well as information on HMGCL mutations of 37 patients (35 families) from metabolic centers in Belgium, Germany, The Netherlands, Switzerland, and Turkey. All patients were symptomatic at some stage with 94% presenting with an acute metabolic decompensation...
May 22, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28583326/cystathionine-%C3%AE-synthase-deficiency-of-mice-and-men
#13
REVIEW
Warren D Kruger
Cystathionine β-synthase (CBS) deficiency (Online Mendelian Inheritance in Man [OMIM] 236,200) is an autosomal recessive disorder that is caused by mutations in the CBS gene. It is the most common inborn error of sulfur metabolism and is the cause of classical homocystinuria, a condition characterized by very high levels of plasma total homocysteine and methionine. Although recognized as an inborn error of metabolism over 60years ago, these is still much we do not understand related to how this specific metabolic defect gives rise to its distinct phenotypes...
May 19, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28579794/diagnostic-applications-of-nuclear-magnetic-resonance-based-urinary-metabolomics
#14
REVIEW
Ana Capati, Omkar B Ijare, Tedros Bezabeh
Metabolomics is a rapidly growing field with potential applications in various disciplines. In particular, metabolomics has received special attention in the discovery of biomarkers and diagnostics. This is largely due to the fact that metabolomics provides critical information related to the downstream products of many cellular and metabolic processes which could provide a snapshot of the health/disease status of a particular tissue or organ. Many of these cellular products eventually find their way to urine; hence, analysis of urine via metabolomics has the potential to yield useful diagnostic and prognostic information...
2017: Magnetic Resonance Insights
https://www.readbyqxmd.com/read/28573160/quantification-of-2-hydroxyglutarate-enantiomers-by-liquid-chromatography-mass-spectrometry
#15
William M Oldham, Joseph Loscalzo
Two enantiomers of 2-hydroxyglutarate (2HG), L (L2HG) and D (D2HG), are metabolites of unknown function in mammalian cells that were initially associated with separate and rare inborn errors of metabolism resulting in increased urinary excretion of 2HG linked to neurological deficits in children (Chalmers et al., 1980; Duran et al., 1980; Kranendijk et al., 2012). More recently, investigators have shown that D2HG is produced by mutant isocitrate dehydrogenase enzymes associated with a variety of human malignancies, such as acute myeloid leukemia, glioblastoma multiforme, and cholangiocarcinoma (Cairns and Mak, 2013; Dang et al...
August 20, 2016: Bio-protocol
https://www.readbyqxmd.com/read/28569194/severe-child-form-of-primary-hyperoxaluria-type-2-a-case-report-revealing-consequence-of-grhpr-deficiency-on-metabolism
#16
Jana Konkoľová, Ján Chandoga, Juraj Kováčik, Marcel Repiský, Veronika Kramarová, Ivana Paučinová, Daniel Böhmer
BACKGROUND: Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glycerate are excreted in the urine, and are a source for the formation of calcium oxalate stones that result in recurrent nephrolithiasis and less frequently nephrocalcinosis. CASE PRESENTATION: We report a case of a 10-month-old patient diagnosed with urolithiasis...
May 31, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28553392/glutaric-aciduria-type-i-a-rare-metabolic-disorder-mimicking-as-choreoathetoid-cerebral-palsy
#17
Pradosh Kumar Sarangi, Lulup Kumar Sahoo, Ashok Kumar Mallick, Prafulla Kumar Dash
Glutaric aciduria type I (GA I) is an autosomal recessive inborn error of metabolism caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. This disorder is characterized by progressive dystonia, choreoathetosis, and dyskinesia. It is often misdiagnosed as athetoid cerebral palsy. Laboratory evaluation usually demonstrates increased urinary excretion of gluataric acid and 3-hydroxyglutaric acid. We report a case of a 7-year-old boy presenting with choreoathetosis and dystonia, mimicking as choreoathetoid cerebral palsy...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28550066/rapid-whole-genome-sequencing-identifies-a-novel-homozygous-npc1-variant-associated-with-niemann-pick-type-c1-disease-in-a-7-week-old-male-with-cholestasis
#18
Amber Hildreth, Kristen Wigby, Shimul Chowdhury, Shareef Nahas, Jaime Barea, Paulina Ordonez, Serge Batalov, David M Dimmock, Rcigm Investigators, Stephen F Kingsmore
Niemann-Pick Type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1. While characterized as a progressive neurological disorder, it can also cause cholestasis and liver dysfunction due to intrahepatocyte lipid accumulation. We report a 7 week old who was admitted with neonatal cholestasis, who was diagnosed with a novel homozygous stop-gain variant in NPC1 by rapid whole genome sequencing (WGS)...
May 26, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28547180/role-of-antioxidant-treatment-on-dna-and-lipid-damage-in-the-brain-of-rats-subjected-to-a-chemically-induced-chronic-model-of-tyrosinemia-type-ii
#19
Emilio L Streck, Samira D T De Prá, Paula Ronsani Ferro, Milena Carvalho-Silva, Lara M Gomes, Jotele F Agostini, Adriani Damiani, Vanessa M Andrade, Patrícia F Schuck, Gustavo C Ferreira, Giselli Scaini
Tyrosine levels are abnormally elevated in tissues and body fluids of patients with inborn errors of tyrosine metabolism. Tyrosinemia type II, which is caused by tyrosine aminotransferase deficiency, provokes eyes, skin, and central nervous system disturbances in affected patients. However, the mechanisms of brain damage are still poorly known. Considering that studies have demonstrated that oxidative stress may contribute, along with other mechanisms, to the neurological dysfunction characteristic of hypertyrosinemia, in the present study we investigated the effects of antioxidant treatment (NAC and DFX) on DNA damage and oxidative stress markers induced by chronic administration of L-tyrosine in cerebral cortex, hippocampus, and striatum of rats...
May 25, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28546865/parkinson-disease-in-gaucher-disease
#20
Federico Rodriguez-Porcel, Alberto J Espay, Miryam Carecchio
BACKGROUND: Gaucher disease (GD) is an inborn error of metabolism caused by mutations in the gene (GBA) coding for glucocerebrosidase (GCase), inherited in an autosomal recessive pattern. GD patients have up to 9% risk of developing PD. CASE PRESENTATION: We report two patients with GD that developed PD at different disease stages. CONCLUSION: We reviewed the literature on the coexistence of PD and GD and speculate that the severity of symptoms may be related to the type of GBA mutation inherited...
2017: Journal of Clinical Movement Disorders
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