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Inherited metabolic disorders

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https://www.readbyqxmd.com/read/28218824/decreased-home-cage-movement-and-oromotor-impairments-in-adult-fmr1-ko-mice
#1
Stephen J Bonasera, Tammy R Chaudoin, Evan H Goulding, Mateusz Mittek, Anna Dunaevsky
Fragile X syndrome (FXS) is a common inherited disorder that significantly impacts family and patient day-to-day living across the entire lifespan. The childhood and adolescent behavioral consequences of FXS are well-appreciated. However, there are significantly fewer studies (except those examining psychiatric comorbidities) assessing behavioral phenotypes seen in adults with FXS. Mice engineered with a genetic lesion of Fmr1 recapitulate important molecular and neuroanatomical characteristics of FXS, and provide a means to evaluate adult behavioral phenotypes associated with FXS...
February 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/28203327/a-rapid-screening-test-on-dried-blood-for-the-neonatal-diagnosis-of-tyrosinemia-type-i
#2
Farahnaz Bodaghkhan, Bita Geramizadeh, Abbas Abdollah Rajeh, Mahmoud Haghighat, Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Mohammad-Hadi Imanieh
BACKGROUND: Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment starting in the neonatal period, the patient can have normal life with very few restrictions in diets containing tyrosine and phenylalanine...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28203044/a-case-of-sitosterolemia-due-to-compound-heterozygous-mutations-in-abcg5-clinical-features-and-treatment-outcomes-obtained-with-colestimide-and-ezetimibe
#3
Sahoko Ono, Junko Matsuda, Aki Saito, Takenobu Yamamoto, Wataru Fujimoto, Hitomi Shimizu, Sumito Dateki, Kazunobu Ouchi
Sitosterolemia is a rare, autosomal recessively inherited disorder of lipid metabolism caused by mutations in the "ATP-binding cassette, subfamily G" member 5 and 8 proteins (encoded by the ABCG5 and ABCG8 genes, respectively), which play critical roles in the intestinal and biliary excretion of plant sterols. We report the clinical features and treatment outcomes of an 18-month-old Japanese girl with sitosterolemia, who presented with multiple linear and intertriginous xanthomas around the joint areas. Serum lipid analyses revealed elevated levels of total cholesterol (T-Chol: 866 mg/dL), low density lipoprotein-cholesterol (LDL-C: 679 mg/dL), and plant sterols (sitosterol: 24...
January 2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28197106/inhibition-of-intermediate-conductance-calcium-activated-k-channel-kca3-1-and-fibroblast-mitogenesis-by-%C3%AE-linolenic-acid-and-alterations-of-channel-expression-in-the-lysosomal-storage-disorders-fabry-disease-and-niemann-pick-c
#4
Aida Oliván-Viguera, Javier Lozano-Gerona, Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Edgar Abarca-Lachen, Ana J García-Malinis, Ángel Luis García-Otín, Yolanda Gilaberte, Pilar Giraldo, Ralf Köhler
The calcium/calmodulin-gated KCa3.1 channel regulates normal and abnormal mitogenesis by controlling K(+)-efflux, cell volume, and membrane hyperpolarization-driven calcium-entry. Recent studies suggest modulation of KCa3.1 by omega-3 fatty acids as negative modulators and impaired KCa3.1 functions in the inherited lysosomal storage disorder (LSD), Fabry disease (FD). In the first part of present study, we characterize KCa3.1 in murine and human fibroblasts and test the impact of omega-3 fatty acids on fibroblast proliferation...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28160395/a-novel-disorder-of-sex-development-characterized-by-progressive-regression-of-testicular-function-and-cystic-leukoencephalopathy
#5
Massimiliano Rossi, Alexandre Vasiljevic, Audrey Labalme, Frédérique Dijoud, Delphine Mallet-Motak, Carmen Adina Petcu, Renaud Touraine, Christine Vianey-Saban, Laurent Guibaud, Patrick Edery, Damien Sanlaville, Yves Morel
We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antimüllerian hormone in the neonatal period, and no persistent müllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement including bilateral periventricular cysts observed in the anterior part of the frontal horns prenatally and increasing in size and number over time, associated with infra and supratentorial parenchymal atrophy, dilated ventricular system, corpus callosum hypoplasia, severe intellectual disability, and epilepsy...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28130615/age-dependent-changes-of-cerebral-copper-metabolism-in-atp7b-knockout-mouse-model-of-wilson-s-disease-by-64-cu-cucl2-pet-ct
#6
Fang Xie, Yin Xi, Juan M Pascual, Otto Muzik, Fangyu Peng
Copper is a nutritional metal required for brain development and function. Wilson's disease (WD), or hepatolenticular degeneration, is an inherited human copper metabolism disorder caused by a mutation of the ATP7B gene. Many WD patients present with variable neurological and psychiatric symptoms, which may be related to neurodegeneration secondary to copper metabolism imbalance. The objective of this study was to explore the feasibility and use of copper-64 chloride ([(64)C]CuCl2) as a tracer for noninvasive assessment of age-dependent changes of cerebral copper metabolism in WD using an Atp7b (-/-) knockout mouse model of WD and positron emission tomography/computed tomography (PET/CT) imaging...
January 27, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28127875/molecular-and-clinical-analysis-of-alpl-in-a-cohort-of-patients-with-suspicion-of-hypophosphatasia
#7
Jair Tenorio, Ignacio Álvarez, Leyre Riancho-Zarrabeitia, Gabriel Á Martos-Moreno, Giorgia Mandrile, Monserrat de la Flor Crespo, Mikhail Sukchev, Mostafa Sherif, Iza Kramer, María T Darnaude-Ortiz, Pedro Arias, Gema Gordo, Irene Dapía, Julián Martinez-Villanueva, Rubén Gómez, José Manuel Iturzaeta, Ghada Otaify, Mayte García-Unzueta, Alessandro Rubinacci, José A Riancho, Mona Aglan, Samia Temtamy, Mohamed Abdel Hamid, Jesús Argente, Víctor L Ruiz-Pérez, Karen E Heath, Pablo Lapunzina
Hypophosphatasia (HPP) is a rare autosomal dominant or recessive metabolic disorder caused by mutations in the tissue nonspecific alkaline phosphatase gene (ALPL). To date, over 300 different mutations in ALPL have been identified. Disease severity is widely variable with severe forms usually manifesting during perinatal and/or infantile periods while mild forms are sometimes only diagnosed in adulthood or remain undiagnosed. Common clinical features of HPP are defects in bone and tooth mineralization along with the biochemical hallmark of decreased serum alkaline phosphatase activity...
January 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28126686/partial-correction-of-neutrophil-dysfunction-by-oral-galactose-therapy-in-glycogen-storage-disease-type-ib
#8
Rudolf Letkemann, Helmut Wittkowski, Aristotelis Antonopoulos, Teodor Podskabi, Stuart M Haslam, Dirk Föll, Anne Dell, Thorsten Marquardt
Glycogen storage disease type Ib (GSD-Ib) is characterized by impaired glucose homeostasis, neutropenia and neutrophil dysfunction. Mass spectrometric glycomic profiling of GSD-Ib neutrophils showed severely truncated N-glycans, lacking galactose. Experiments indicated the hypoglycosylation of the electron transporting subunit of NADPH oxidase, which is crucial for the defense against bacterial infections. In phosphoglucomutase 1 (PGM1) deficiency, an inherited disorder with an enzymatic defect just one metabolic step ahead, hypogalactosylation can be successfully treated by dietary galactose...
January 23, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28125972/gitelman-syndrome-in-a-south-african-family-presenting-with-hypokalaemia-and-unusual-food-cravings
#9
Pieter Du Toit van der Merwe, Megan A Rensburg, William L Haylett, Soraya Bardien, M Razeen Davids
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. METHODS: The affected individuals and two unaffected first degree relatives were enrolled into the study...
January 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28125404/bone-mineral-density-and-bone-metabolic-markers-status-in-children-with-neurofibromatosis-type-1
#10
Hatice Gamze Poyrazoğlu, Veysel Nijat Baş, Alev Arslan, Funda Bastug, Mehmet Canpolat, Hüseyin Per, Hakan Gümüs, Sefer Kumandas
BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem disorder characterized by progressive manifestations, which is inherited in an autosomal dominant manner. The majority of patients with NF1 experience a diffuse, significant reduction in bone mass over time, with osteoporosis, osteopenia in the absence of severe scoliosis, or gross bone deformities. This study aimed to determine the bone mineral density (BMD) status, evaluate bone metabolism, and to determine the relevant factors in children with NF1...
February 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28123333/clinical-molecular-and-genetic-evaluation-of-galactosemia-in-turkish-children
#11
Sezen Ugan Atik, Semra Gürsoy, Tuba Koçkar, Hasan Önal, Servet Erdal Adal
AIM: Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28111236/prevalence-of-prediabetes-risk-in-offspring-born-to-mothers-with-hyperandrogenism
#12
Shen Tian, Xian-Hua Lin, Yi-Meng Xiong, Miao-E Liu, Tian-Tian Yu, Min Lv, Wei Zhao, Gu-Feng Xu, Guo-Lian Ding, Chen-Ming Xu, Min Jin, Chun Feng, Yan-Ting Wu, Ya-Jing Tan, Qian Gao, Jian Zhang, Cheng Li, Jun Ren, Lu-Yang Jin, Bin Chen, Hong Zhu, Xue-Ying Zhang, Song-Chang Chen, Xin-Mei Liu, Ye Liu, Jun-Yu Zhang, Li Wang, Ping Zhang, Xiao-Jun Chen, Li Jin, Xi Chen, Yi-Cong Meng, Dan-Dan Wu, Hui Lin, Qian Yang, Cheng-Liang Zhou, Xin-Zhu Li, Yi-Yu Wang, Yu-Qian Xiang, Zhi-Wei Liu, Ling Gao, Lu-Ting Chen, Hong-Jie Pan, Rong Li, Fang-Hong Zhang, Lan-Feng Xing, Yi-Min Zhu, Christian Klausen, Peter C K Leung, Ju-Xue Li, Fei Sun, Jian-Zhong Sheng, He-Feng Huang
BACKGROUND: Excessive androgen exposure during pregnancy has been suggested to induce diabetic phenotypes in offspring in animal models. The aim of this study was to investigate whether pregestational maternal hyperandrogenism in human influenced the glucose metabolism in offspring via epigenetic memory from mother's oocyte to child's somatic cells. METHODS: Of 1782 reproductive-aged women detected pregestational serum androgen, 1406 were pregnant between 2005 and 2010...
January 11, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#13
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28095804/pulmonary-manifestations-in-niemann-pick-type-c-disease-with-mutations-in-npc2-gene-case-report-and-review-of-literature
#14
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28089749/pyroglutamate-5-oxoproline-measured-with-hydrophilic-interaction-chromatography-hilic-tandem-mass-spectrometry-in-acutely-ill-patients
#15
Carel J Pretorius, Michael C Reade, Chris Warnholtz, Brett McWhinney, Meng Mei Phua, Jeffrey Lipman, Jacobus P J Ungerer
BACKGROUND: Pyroglutamic acid (PGA) is challenging to quantify in plasma and is a rare cause of metabolic acidosis that is associated with inherited disorders or acquired after exposure to drugs. METHOD: We developed a hydrophilic interaction liquid chromatography tandem mass spectrometry method with a short analysis time. We established a reference interval and then measured PGA in acutely ill patients to investigate associations with clinical, pharmaceutical and laboratory parameters...
January 12, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28067471/traditional-and-novel-tools-to-probe-the-mitochondrial-metabolism-in-health-and-disease
#16
REVIEW
Yanfei Zhang, José L Avalos
Mitochondrial metabolism links energy production to other essential cellular processes such as signaling, cellular differentiation, and apoptosis. In addition to producing adenosine triphosphate (ATP) as an energy source, mitochondria are responsible for the synthesis of a myriad of important metabolites and cofactors such as tetrahydrofolate, α-ketoacids, steroids, aminolevulinic acid, biotin, lipoic acid, acetyl-CoA, iron-sulfur clusters, heme, and ubiquinone. Furthermore, mitochondria and their metabolism have been implicated in aging and several human diseases, including inherited mitochondrial disorders, cardiac dysfunction, heart failure, neurodegenerative diseases, diabetes, and cancer...
January 9, 2017: Wiley Interdisciplinary Reviews. Systems Biology and Medicine
https://www.readbyqxmd.com/read/28063767/peroxisomal-dysfunction-in-age-related-diseases
#17
REVIEW
Cynthia M Cipolla, Irfan J Lodhi
Peroxisomes carry out many key functions related to lipid and reactive oxygen species (ROS) metabolism. The fundamental importance of peroxisomes for health in humans is underscored by the existence of devastating genetic disorders caused by impaired peroxisomal function or lack of peroxisomes. Emerging studies suggest that peroxisomal function may also be altered with aging and contribute to the pathogenesis of a variety of diseases, including diabetes and its related complications, neurodegenerative disorders, and cancer...
January 4, 2017: Trends in Endocrinology and Metabolism: TEM
https://www.readbyqxmd.com/read/28057010/update-on-lysinuric-protein-intolerance-a-multi-faceted-disease-retrospective-cohort-analysis-from-birth-to-adulthood
#18
Wladimir Mauhin, Florence Habarou, Stéphanie Gobin, Aude Servais, Anaïs Brassier, Coraline Grisel, Célina Roda, Graziella Pinto, Despina Moshous, Fahd Ghalim, Pauline Krug, Nelly Deltour, Clément Pontoizeau, Sandrine Dubois, Murielle Assoun, Louise Galmiche, Jean-Paul Bonnefont, Chris Ottolenghi, Jacques de Blic, Jean-Baptiste Arnoux, Pascale de Lonlay
BACKGROUND: Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y(+)LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder, but symptoms are heterogeneous ranging from infiltrative lung disease, kidney failure to auto-immune complications. This retrospective study of all cases treated at Necker Hospital (Paris, France) since 1977 describes LPI in both children and adults in order to improve therapeutic management...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28053874/long-term-outcome-of-isobutyryl-coa-dehydrogenase-deficiency-diagnosed-following-an-episode-of-ketotic-hypoglycaemia
#19
S Santra, A Macdonald, M A Preece, R K Olsen, B S Andresen
Isobutyryl-CoA Dehydrogenase Deficiency (IBDD) is an inherited disorder of valine metabolism caused by mutations in ACAD8. Most reported patients have been diagnosed through newborn screening programmes due to elevated C4-carnitine levels and appear clinically asymptomatic. One reported non-screened patient had dilated cardiomyopathy and anaemia at the age of two years. We report a 13 month old girl diagnosed with IBDD after developing hypoglycaemic encephalopathy (blood glucose 1.9 mmol/l) during an episode of rotavirus-induced gastroenteritis...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28052950/sepsis-and-siderosis-yersinia-enterocolitica-and-hereditary-haemochromatosis
#20
Phoebe A Thwaites, Marion L Woods
A 60-year-old woman was admitted with sepsis, relative bradycardia, CT evidence of numerous small liver abscesses and 'skin bronzing' consistent with hereditary haemochromatosis (HH). Yersinia enterocolitica O:9 infection was confirmed by serology specimens taken 10 days apart. Iron overload was detected, and homozygous C282Y gene mutation confirmed HH. Liver biopsy revealed grade IV siderosis with micronodular cirrhosis. Haemochromatosis is a common, inherited disorder leading to iron overload that can produce end-organ damage from excess iron deposition...
January 4, 2017: BMJ Case Reports
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