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Inherited metabolic diseases

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https://www.readbyqxmd.com/read/28334947/protocadherin-19-pcdh19-interacts-with-paraspeckle-protein-nono-to-co-regulate-gene-expression-with-estrogen-receptor-alpha-er%C3%AE
#1
Duyen H Pham, Chuan Tan, Claire C Homan, Kristy Kolc, Mark Corbett, Dale McAninch, Archa Fox, Paul Thomas, Raman Kumar, Jozef Gecz
De novo and inherited mutations of X-chromosome cell adhesion molecule protocadherin 19 (PCDH19) cause frequent, highly variable epilepsy, autism, cognitive decline and behavioural problems syndrome. Intriguingly, hemizygous null males are not affected while heterozygous females are, contradicting established X-chromosome inheritance. The disease mechanism is not known. Cellular mosaicism is the likely driver. We have identified p54nrb/NONO, a multifunctional nuclear paraspeckle protein with known roles in nuclear hormone receptor gene regulation, as a PCDH19 protein interacting partner...
March 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28331304/does-urinary-peptide-content-differ-between-copd-patients-with-and-without-inherited-alpha-1-antitrypsin-deficiency
#2
Alfonso Carleo, Joanna Chorostowska-Wynimko, Thomas Koeck, Harald Mischak, Małgorzata Czajkowska-Malinowska, Adriana Rozy, Tobias Welte, Sabina Janciauskiene
Differentiating between chronic obstructive pulmonary disease (COPD) patients with normal (PiMM) or deficient (PiZZ) genetic variants of alpha-1 antitrypsin (A1AT) is important not only for understanding the pathobiology of disease progression but also for improving personalized therapies. This pilot study aimed to investigate whether urinary peptides reflect the A1AT-related phenotypes of COPD. Urine samples from 19 clinically stable COPD cases (7 PiMM and 12 PiZZ A1AT) were analyzed by capillary electrophoresis coupled to mass spectrometry...
2017: International Journal of Chronic Obstructive Pulmonary Disease
https://www.readbyqxmd.com/read/28326335/multiple-fractures-pain-and-severe-disability-in-a-patient-with-adult-onset-hypophosphatasia
#3
Neil A Braunstein
Hypophosphatasia (HPP) is a rare, inherited metabolic bone disease resulting from mutations in the gene encoding tissue non-specific alkaline phosphatase. The biochemical hallmark and key diagnostic indicator is low alkaline phosphatase activity, which leads to a variety of clinical manifestations across all ages. The diagnosis is easily missed in adults, who frequently present with nonspecific clinical manifestations such as fractures, osteomalacia, and pain. Here, the pathway to diagnosis and disease course is described in an adult patient presenting with pain...
June 2016: Bone Reports
https://www.readbyqxmd.com/read/28323990/galactose-supplementation-in-tmem165-cdg-patients-rescues-the-glycosylation-defects
#4
Willy Morelle, Sven Potelle, Peter Witters, Sunnie Wong, Leslie Climer, Vladimir Lupashin, Gert Matthijs, Therese Gadomski, Jaak Jaeken, David Cassiman, Eva Morava, François Foulquier
Context: TMEM165 deficiency is a severe multisystem disease that manifests with metabolic, endocrine and skeletal involvement. It leads to one type of congenital disorders of glycosylation (CDG), a rapidly growing group of inherited diseases where the glycosylation process is altered. Patients have decreased galactosylation by serum glycan analysis. There are over one hundred CDGs but only specific types are treatable. Objective: Galactose has been shown to be beneficial in other CDG types with abnormal galactosylation...
January 9, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28303424/inherited-disorders-of-transition-metal-metabolism-an-update
#5
REVIEW
Peter T Clayton
Elements with a biological role include six trace transition metals: manganese, iron, cobalt, copper, zinc and molybdenum. Transition metals participate in group transfer reactions such as glycosylation and phosphorylation and those that can transfer an electron by alternating between two redox states such as iron (3+/2+) and copper (2+/1+) are also very important in biological redox reactions including the reduction of molecular oxygen and the transport of oxygen. However, these trace metals are also potentially toxic, generating reactive oxygen species through Fenton chemistry...
March 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28302238/gitelman-syndrome
#6
Qurat Ul Ain Mustafa, Zujaja Hina Haroon, Aamir Ijaz, Muhammad Tanveer Sajid, Muhammad Ayyub
Gitelman syndrome (GS) is the most frequently inherited renal salt-wasting tubulointerstitial disease. It follows variable but usually asymptomatic benign course. We present a rare case of GS that remained clinical enigma. A 22-year male presented with severe episodic fatigue involving all limbs associated with episodes of sinking, palpitations, salt craving, increased thirst and frequent micturition hampering his routine daily activities. Laboratory workup revealed serum potassium, 2.7 mmol/L, serum magnesium, 0...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28285544/improvement-of-aav-mediated-liver-transduction-efficacy-by-regional-administration-in-macaca-fascicularis
#7
Nerea Zabaleta, David Salas, Maria Paramo, Mirja Hommel, Valerie Valerie Sier-Ferreira, Ruben Hernandez-Alcoceba, Jesus Prieto, Jose Ignacio Bilbao, Gloria Gonzalez-Aseguinolaza
The liver is a central organ in metabolism and can be affected by numerous inherited metabolic disorders. Recombinant adeno-associated virus (AAV)-based gene therapy represents a promising therapeutic approach for such diseases. AAVs have been demonstrated to be safe, and resulted in high and long-term expression in preclinical and clinical studies. However, there are still some concerns regarding the expression levels that can be achieved and the percentage of hepatocytes that can be transduced. Due to the cell-autonomous nature of most metabolic liver disorders, a high percentage of hepatocytes needs to be corrected in order to achieve a therapeutic effect...
March 12, 2017: Human Gene Therapy. Clinical Development
https://www.readbyqxmd.com/read/28284388/neonatal-screening-for-inherited-metabolic-diseases-in-2016
#8
Judit Garcia Villoria, Sonia Pajares, Rosa María López, José Luis Marin, Antonia Ribes
The scope of newborn screening (NBS) programs is continuously expanding. NBS programs are secondary prevention interventions widely recognized internationally in the "field of Public Health." These interventions are aimed at early detection of asymptomatic children affected by certain diseases, with the objective to establish a definitive diagnosis and apply the proper treatment to prevent further complications and sequelae and ensure a better quality of life. The most significant event in the history of neonatal screening was the discovery of phenylketonuria in 1934...
November 2016: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28283392/addictions-neuroclinical-assessment-a-reverse-translational-approach
#9
REVIEW
Laura E Kwako, Reza Momenan, Erica N Grodin, Raye Z Litten, David Goldman
Incentive salience, negative emotionality, and executive function are functional domains that are etiologic in the initiation and progression of addictive disorders, having been implicated in humans with addictive disorders and in animal models of addictions. Measures of these three neuroscience-based functional domains can capture much of the effects of inheritance and early exposures that lead to trait vulnerability shared across different addictive disorders. For specific addictive disorders, these measures can be supplemented by agent specific measures such as those that access pharmacodynamic and pharmacokinetic variation attributable to agent-specific gatekeeper molecules including receptors and drug-metabolizing enzymes...
March 7, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28281081/sweet-and-sour-an-update-on-classic-galactosemia
#10
REVIEW
Ana I Coelho, M Estela Rubio-Gozalbo, João B Vicente, Isabel Rivera
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term complications, such as cognitive, social and reproductive impairments. Classic galactosemia represents a heavy burden on patients' and their families' lives...
March 9, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28277130/low-birth-weight-is-a-pcos-risk-factor-for-southern-italian-women
#11
M Stracquadanio, L Ciotta
Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine and metabolic disorder, characterized by chronic anovulation/oligomenorrhea, hyperandrogenism and insulin-resistance. Initial studies on the genetic basis of this disorder suggested both a maternal and paternal pattern of inheritance. Birth weight has become a main factor to consider when investigating the etiology of an adult-onset disease, since it is a simple indicator of intrauterine adverse conditions. The aim of our study is to validate the "low birth-weight" as risk factor for the development of PCOS...
February 21, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28276873/the-hidden-niemann-pick-type-c-patient-clinical-niches-for-a-rare-inherited-metabolic-disease
#12
Christian J Hendriksz, Mathieu Anheim, Peter Bauer, Olivier Bonnot, Anupam Chakrapani, Jean-Christophe Corvol, Tom J de Koning, Anna Degtyareva, Carlo Dionisi-Vici, Sarah Doss, Thomas Duning, Paola Giunti, Rosa Iodice, Tracy Johnston, Dierdre Kelly, Hans-Hermann Klünemann, Stefan Lorenzl, Alessandro Padovani, Miguel Pocovi, Matthis Synofzik, Alta Terblanche, Florian Then Bergh, Meral Topçu, Christine Tranchant, Mark Walterfang, Christian Velten, Stefan A Kolb
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C...
March 2, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28273120/further-investigation-of-phenotypes-and-confounding-factors-of-progressive-ratio-performance-and-feeding-behavior-in-the-bachd-rat-model-of-huntington-disease
#13
Erik Karl Håkan Clemensson, Laura Emily Clemensson, Benedikt Fabry, Olaf Riess, Huu Phuc Nguyen
Huntington disease is an inherited neurodegenerative disorder characterized by motor, cognitive, psychiatric and metabolic symptoms. We recently published a study describing that the BACHD rat model of HD shows an obesity phenotype, which might affect their motivation to perform food-based behavioral tests. Further, we argued that using a food restriction protocol based on matching BACHD and wild type rats' food consumption rates might resolve these motivational differences. In the current study, we followed up on these ideas in a longitudinal study of the rats' performance in a progressive ratio test...
2017: PloS One
https://www.readbyqxmd.com/read/28272331/ornithine-aminotransferase-an-important-glutamate-metabolizing-enzyme-at-the-crossroads-of-multiple-metabolic-pathways
#14
REVIEW
Antonin Ginguay, Luc Cynober, Emmanuel Curis, Ioannis Nicolis
Ornithine δ-aminotransferase (OAT, E.C. 2.6.1.13) catalyzes the transfer of the δ-amino group from ornithine (Orn) to α-ketoglutarate (aKG), yielding glutamate-5-semialdehyde and glutamate (Glu), and vice versa. In mammals, OAT is a mitochondrial enzyme, mainly located in the liver, intestine, brain, and kidney. In general, OAT serves to form glutamate from ornithine, with the notable exception of the intestine, where citrulline (Cit) or arginine (Arg) are end products. Its main function is to control the production of signaling molecules and mediators, such as Glu itself, Cit, GABA, and aliphatic polyamines...
March 7, 2017: Biology
https://www.readbyqxmd.com/read/28258649/the-cardiac-manifestations-of-inherited-metabolic-diseases-in-children
#15
REVIEW
David F A Lloyd, Roshni Vara, Sujeev Mathur
Inborn errors of metabolism (IEMs) are responsible for around 5% of all cases of cardiomyopathy (CM) and 15% of non-idiopathic cases. Storage disorders such as Pompe disease (glycogen storage disease type II) typically cause hypertrophic cardiomyopathy, whereas the accumulation of toxic metabolites, as seen in the organic acidurias, is associated with dilated cardiomyopathy (DCM). Mixed pathology is also possible, particularly in late presentations. IEMs such as Barth syndrome, a disorder of cardiolipin stability usually associated with DCM, have been associated with rarer types of CM such as endocardial fibroelastosis (EFE) and left ventricular non-compaction...
March 4, 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28256436/parkinsonian-pyramidal-syndromes-a-systematic-review
#16
REVIEW
Christine Tranchant, Meriam Koob, Mathieu Anheim
INTRODUCTION: Parkinsonian-Pyramidal syndrome (PPS), defined as the combination of both pyramidal and parkinsonian signs is a concept that recently emerged. PPS may manifest itself in numerous neurodegenerative diseases, many of these being inherited. Their diagnosis is a major challenge for the clinical management, for the prognosis, for genetic counselling and, in a few cases, which should not be neglected, for specific treatment. OBJECTIVE: Our objective is to provide a review of PPS and an algorithm in order to guide their diagnosis in clinical practice...
February 22, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28254079/bidimensional-unconstrained-optimization-approach-to-emd-an-algorithm-revealing-skin-perfusion-alterations-in-pseudoxanthoma-elasticum-patients
#17
Anne Humeau-Heurtier, Marcelo A Colominas, Gastón Schlotthauer, Maxime Etienne, Ludovic Martin, Pierre Abraham
BACKGROUND AND OBJECTIVE: Pseudoxanthoma elasticum (PXE) is an inherited and systemic metabolic disorder that affects the skin, leading among other things to a peau d'orange appearance. Unfortunately, PXE is still poorly understood and there is no existing therapy to treat the disease. Because the skin is the first organ to be affected in PXE, we propose herein a study of skin microvascular perfusion. By means of this analysis, our goal is to increase knowledge of PXE. METHODS: For this purpose, microvascular data from patients suffering from PXE and from healthy control subjects were recorded using the laser speckle contrast imaging (LSCI) modality...
March 2017: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/28246924/jsa-guideline-for-the-management-of-malignant-hyperthermia-crisis-2016
#18
REVIEW
(no author information available yet)
Malignant hyperthermia (MH) can be fatal if the crisis is not appropriately treated. It is an inherited disease usually triggered by the administration of volatile inhalational anesthetics and/or succinylcholine, a muscle relaxant. In a patient with suspected MH, the mechanism of calcium release from storage in the sarcoplasmic reticulum in the skeletal muscle is abnormally accelerated. Unexplained hypercarbia representing >55 mmHg of end-tidal carbon dioxide, tachycardia, and muscle rigidity (including masseter muscle rigidity) are early signs of the initiation of MH, because the metabolism is accelerated...
February 28, 2017: Journal of Anesthesia
https://www.readbyqxmd.com/read/28245613/from-lysosomal-storage-diseases-to-nkt-cell-activation-and-back
#19
REVIEW
Cátia S Pereira, Helena Ribeiro, M Fatima Macedo
Lysosomal storage diseases (LSDs) are inherited metabolic disorders characterized by the accumulation of different types of substrates in the lysosome. With a multisystemic involvement, LSDs often present a very broad clinical spectrum. In many LSDs, alterations of the immune system were described. Special emphasis was given to Natural Killer T (NKT) cells, a population of lipid-specific T cells that is activated by lipid antigens bound to CD1d (cluster of differentiation 1 d) molecules at the surface of antigen-presenting cells...
February 25, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28240926/the-impact-of-phenylalanine-levels-on-cognitive-outcomes-in-adults-with-phenylketonuria-effects-across-tasks-and-developmental-stages
#20
Cristina Romani, Liana Palermo, Anita MacDonald, Ellie Limback, S Kate Hall, Tarekegn Geberhiwot
OBJECTIVE: Phenylketonuria (PKU) is due to an inability to metabolize the amino acid phenylalanine (Phe), leading to its accumulation in the brain. Phe levels can be controlled following a protein-free diet, but cognitive impairments are still present. A number of questions remain to be answered related to which type of metabolic control is important, the age when it is important, the cognitive functions which are most affected and, the best tests to use to monitor cognitive health. METHOD: We investigated the impact of metabolic control at different ages on cognitive performance in 37 early treated adults with PKU...
March 2017: Neuropsychology
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