keyword
MENU ▼
Read by QxMD icon Read
search

Inherited metabolic disorders

keyword
https://www.readbyqxmd.com/read/28926971/mini-review-the-contribution-of-intermediate-phenotypes-to-gxe-effects-on-disorders-of-body-composition-in-the-new-omics-era
#1
REVIEW
Edna J Nava-Gonzalez, Esther C Gallegos-Cabriales, Irene Leal-Berumen, Raul A Bastarrachea
Studies of gene-environment (GxE) interactions describe how genetic and environmental factors influence the risk of developing disease. Intermediate (molecular or clinical) phenotypes (IPs) are traits or metabolic biomarkers that mediate the effects of gene-environment influences on risk behaviors. Functional systems genomics discovery offers mechanistic insights into how DNA variations affect IPs in order to detect genetic causality for a given disease. Disorders of body composition include obesity (OB), Type 2 diabetes (T2D), and osteoporosis (OSTP)...
September 17, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28918066/enzymatic-testing-sensitivity-variability-and-practical-diagnostic-algorithm-for-pyruvate-dehydrogenase-complex-pdc-deficiency
#2
Ha Kyung Shin, George Grahame, Shawn E McCandless, Douglas S Kerr, Jirair K Bedoyan
Pyruvate dehydrogenase complex (PDC) deficiency is a major cause of primary lactic acidemia in children. Prompt and correct diagnosis of PDC deficiency and differentiating between specific vs generalized, or secondary deficiencies has important implications for clinical management and therapeutic interventions. Both genetic and enzymatic testing approaches are being used in the diagnosis of PDC deficiency. However, the diagnostic efficacy of such testing approaches for individuals affected with PDC deficiency has not been systematically investigated in this disorder...
September 8, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28917829/a-chinese-boy-with-geleophysic-dysplasia-caused-by-compound-heterozygous-mutations-in-adamtsl2
#3
Li Dongxiao, Dong Hui, Zheng Hong, Song Jinqing, Li Xiyuan, Jin Ying, Liu Yupeng, Yang Yanling
Geleophysic dysplasia, belonging to the group of acromelic dysplasia, is a rare genetic disease. Two genes, FBN1 and ADAMTSL2, were known to be linked to this disorder. The disorder presents as extreme short stature, short limbs, small hands and feet, stubby fingers and toes, joint stiffness, toe walking, skin thickening, progressive cardiac valvular thickening and characteristic facial features, including a round face with full cheeks. Here, we report the first Chinese case with geleophysic dysplasia type 1 based on clinical and genetic features...
September 13, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#4
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
September 15, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28914857/-characteristics-of-lipid-metabolism-and-the-cardiovascular-system-in-glycogenosis-types-i-and-iii
#5
N V Polenova, T V Strokova, A V Starodubova
Glycogen storage disease (GSD) is an inherited metabolic disorder characterized by early childhood lipid metabolic disturbances with potentially proatherogenic effects. The review outlines the characteristics of impaired lipid composition and other changes in the cardiovascular system in GSD types I and III. It analyzes the factors enabling and inhibiting the development of atherosclerosis in patients with GSD. The review describes the paradox of vascular resistance to the development of early atherosclerosis despite the proatherogenic composition of lipids in the patients of this group...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28904459/clinical-biochemical-characteristics-and-hospital-outcome-of-acute-intermittent-porphyria-patients-a-descriptive-study-from-north-india
#6
Susheel Kumar, Ashish Bhalla, Navneet Sharma, Deba Prasad Dhibar, Savita Kumari, Subhash Varma
INTRODUCTION: Acute intermittent porphyria (AIP) is an inherited metabolic disease characterized by disordered heme biosynthesis. There is no recent study reported from India. MATERIALS AND METHODS: It was a retrospective, observational study. Clinical records of patients of AIP with acute porphyric attacks admitted from April 2008 to December 2016 were analyzed. RESULTS: Fifteen AIP patients constituted of eight females and seven males were analyzed...
July 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28904344/perturbed-cholesterol-and-vesicular-trafficking-associated-with-dengue-blocking-in-wolbachia-infected-aedes-aegypti-cells
#7
Vincent Geoghegan, Kirsty Stainton, Stephanie M Rainey, Thomas H Ant, Adam A Dowle, Tony Larson, Svenja Hester, Philip D Charles, Benjamin Thomas, Steven P Sinkins
Wolbachia are intracellular maternally inherited bacteria that can spread through insect populations and block virus transmission by mosquitoes, providing an important approach to dengue control. To better understand the mechanisms of virus inhibition, we here perform proteomic quantification of the effects of Wolbachia in Aedes aegypti mosquito cells and midgut. Perturbations are observed in vesicular trafficking, lipid metabolism and in the endoplasmic reticulum that could impact viral entry and replication...
September 13, 2017: Nature Communications
https://www.readbyqxmd.com/read/28895280/addition-of-oral-iron-to-plasma-transfusion-in-human-congenital-hypotransferrinemia-a-10-year-observational-follow-up-with-the-effects-on-hematological-parameters-and-growth
#8
Deniz Aslan
Congenital hypotransferrinemia (OMIM 209300) is an extremely rare disorder of inherited iron metabolism. Since its description in 1961, only 16 cases have been reported. The defective gene and molecular defect causing this disorder and clinicolaboratory findings seen in the homozygous and heterozygous states have been documented in both humans and mice. However, due to the lack of follow-up studies of the described cases, the long-term prognosis remains unknown. We present a 10-year observational follow-up of a patient previously diagnosed on a molecular basis who was treated with a unique therapy of plasma transfusion fortified with oral iron, with satisfactory clinicolaboratory responses...
September 12, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28894950/autism-spectrum-disorder-an-early-and-frequent-feature-in-cerebrotendinous-xanthomatosis
#9
Bianca M L Stelten, Olivier Bonnot, Hidde H Huidekoper, Francjan J van Spronsen, Peter M van Hasselt, Leo A J Kluijtmans, Ron A Wevers, Aad Verrips
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene. The clinical picture ranges from being nearly asymptomatic in early childhood, up to severe disability at adult age. Infantile-onset diarrhea and juvenile-onset cataract are the earliest symptoms in childhood. In the current study, we evaluated the presence of autism spectrum disorder (ASD) in a large cohort of CTX patients. METHODS: We performed a retrospective patient file study in 77 genetically confirmed Dutch CTX patients to determine the frequency of ASD...
September 11, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28891970/the-abcc6-transporter-a-new-player-in-biomineralization
#10
REVIEW
Guillaume Favre, Audrey Laurain, Tamas Aranyi, Flora Szeri, Krisztina Fulop, Olivier Le Saux, Christophe Duranton, Gilles Kauffenstein, Ludovic Martin, Georges Lefthériotis
Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept evolved with the further discoveries of the pivotal role of ectopic mineralization that is preponderant in the elastin-rich tissues of the skin, eyes and blood vessel walls. After discovery of the causative gene of the disease in 2000, the function of the ABCC6 protein remains elusive...
September 11, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28889262/inherited-disorders-of-manganese-metabolism
#11
Charles E Zogzas, Somshuvra Mukhopadhyay
While the neurotoxic effects of manganese were recognized in 1837, the first genetic disorder of manganese metabolism was described only in 2012 when homozygous mutations in SLC30A10 were reported to cause manganese-induced neurotoxicity. Two other genetic disorders of manganese metabolism have now been described - mutations in SLC39A14 cause manganese toxicity, while mutations in SLC39A8 cause manganese and zinc deficiency. Study of rare genetic disorders often provides unique insights into disease pathobiology, and the discoveries of these three inherited disorders of manganese metabolism are already transforming our understanding of manganese homeostasis, detoxification, and neurotoxicity...
2017: Advances in Neurobiology
https://www.readbyqxmd.com/read/28889092/quantitative-mr-spectroscopic-imaging-in-metachromatic-leukodystrophy-value-for-prognosis-and-treatment
#12
Diane F van Rappard, Antoine Klauser, Marjan E Steenweg, Jaap Jan Boelens, Marianna Bugiani, Marjo S van der Knaap, Nicole I Wolf, Petra J W Pouwels
OBJECTIVE: To determine whether proton magnetic resonance spectroscopic imaging is useful in predicting clinical course of patients with metachromatic leukodystrophy (MLD), an inherited white matter disorder treatable with haematopoietic cell transplantation (HCT). METHODS: 21 patients with juvenile or adult MLD (12 HCT-treated) were compared with 16 controls in the same age range. Clinical outcome was determined as good, moderate or poor. Metabolites were quantified in white matter, and significance of metabolite concentrations at baseline for outcome prediction was assessed using logistic regression analysis...
September 9, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28888853/monitoring-guidance-for-patients-with-hypophosphatasia-treated-with-asfotase-alfa
#13
REVIEW
Priya S Kishnani, Eric T Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William Fraser, Paul Harmatz, Agnès Linglart, Craig F Munns, Mark E Nunes, Howard M Saal, Lothar Seefried, Keiichi Ozono
Hypophosphatasia (HPP) is a rare, inherited, systemic, metabolic disorder caused by autosomal recessive mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). The disease is associated with a broad range of signs, symptoms, and complications, including impaired skeletal mineralization, altered calcium and phosphate metabolism, recurrent fractures, pain, respiratory problems, impaired growth and mobility, premature tooth loss, developmental delay, and seizures...
July 25, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28888424/novel-patient-missense-mutations-in-the-hsd17b10-gene-affect-dehydrogenase-and-mitochondrial-trna-modification-functions-of-the-encoded-protein
#14
Stephanie Oerum, Martine Roovers, Michael Leichsenring, Cécile Acquaviva-Bourdain, Frauke Beermann, Corinne Gemperle-Britschgi, Alain Fouilhoux, Anne Korwitz-Reichelt, Henry J Bailey, Louis Droogmans, Udo Oppermann, Jörn Oliver Sass, Wyatt W Yue
MRPP2 (also known as HSD10/SDR5C1) is a multifunctional protein that harbours both catalytic and non-catalytic functions. The protein belongs to the short-chain dehydrogenase/reductases (SDR) family and is involved in the catabolism of isoleucine in vivo and steroid metabolism in vitro. MRPP2 also moonlights in a complex with the MRPP1 (also known as TRMT10C) protein for N1-methylation of purines at position 9 of mitochondrial tRNA, and in a complex with MRPP1 and MRPP3 (also known as PRORP) proteins for 5'-end processing of mitochondrial precursor tRNA...
September 6, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28878548/arthroscopic-diagnosis-and-treatment-of-shoulder-ochronotic-arthropathy-a-case-report
#15
Prateek Kumar Gupta, Ashis Acharya, Dhananjay Sabat, Amit Mourya
Alkaptonuria is a rare inherited metabolic disorder, caused by the deficiency of homogentisate 1,2 dioxygenase enzyme. The three major features of alkaptonuria are the presence of homogentisic acid in urine, ochronosis (bluish-black pigmentation in connective tissue) and arthritis of the spine and large joints. We present a 48 years old female presented with pain, restriction of movements of right shoulder. Arthroscopy was suggestive of ochronotic arthropathy. The definitive diagnosis of ochronosis was subsequently confirmed by laboratory and pathologic evaluation...
August 2017: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28870047/-expert-consensus-for-the-diagnosis-and-treatment-of-patients-with-gitelman-syndrome
#16
(no author information available yet)
Gitelman syndrome (GS) is an autosomal recessive, salt-losing tubulopathy caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC). GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. GS is one of the most common inherited renal tubulopathy with a prevalence estimated at about one to ten per 40 000 people. The prevalence of GS is even higher in Asia than other countries. The majority of GS patients present mild and nonspecific symptoms during adolescence or adulthood...
September 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28868294/integration-of-proteomics-and-metabolomics-in-exploring-genetic-and-rare-metabolic-diseases
#17
REVIEW
Michele Costanzo, Miriam Zacchia, Giuliana Bruno, Daniela Crisci, Marianna Caterino, Margherita Ruoppolo
BACKGROUND: Inherited metabolic disorders or inborn errors of metabolism are caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders include aminoacidopathies, urea cycle defects, organic acidemias, defects of oxidation of fatty acids, and lysosomal storage diseases. Inborn errors of metabolism constitute a significant proportion of genetic diseases, particularly in children; however, they are individually rare. Clinical phenotypes are very variable, some of them remain asymptomatic, others manifest metabolic decompensation in neonatal age, and others encompass mental retardation at later age...
July 2017: Kidney Diseases
https://www.readbyqxmd.com/read/28860124/quantitative-analysis-of-the-proteome-response-to-the-histone-deacetylase-inhibitor-hdaci-vorinostat-in-niemann-pick-type-c1-disease
#18
Kanagaraj Subramanian, Navin Rauniyar, Mathieu Lavalleé-Adam, John R Yates, William E Balch
Niemann-Pick type C (NPC) disease is an inherited, progressive neurodegenerative disorder principally caused by mutations in the NPC1 gene. NPC disease is characterized by the accumulation of unesterified cholesterol in the late endosomes (LE) and lysosomes (LE) (LE/Ly). Vorinostat, a histone deacetylase inhibitor (HDACi), restores cholesterol homeostasis in fibroblasts derived from NPC patients; however, the exact mechanism by which Vorinostat restores cholesterol level is not known yet. In this study, we performed comparative proteomic profiling of the response of NPC1I1061T fibroblasts to Vorinostat...
August 31, 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28859232/pregnancy-in-wilson-disease-management-and-outcome
#19
Jan Pfeiffenberger, Sandra Beinhardt, Daniel N Gotthardt, Nicola Haag, Clarissa Freissmuth, Ulrike Reuner, Annika Gauss, Wolfgang Stremmel, Michael L Schilsky, Peter Ferenci, Karl Heinz Weiss
Introduction Wilson disease (WD) is a rare inherited disorder of copper metabolism causing toxic hepatic and neural copper accumulation. Clinical symptoms vary widely, from asymptomatic disease to acute liver failure or chronic liver disease without or with neuropsychiatric symptoms. Continuation of specific medical treatment for WD is recommended during pregnancy, but reports of pregnancy outcomes in WD patients are sparse. Patients and methods In a retrospective, multicenter study, 282 pregnancies in 136 WD patients were reviewed...
August 31, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28856504/symptoms-of-autism-spectrum-disorder-asd-in-individuals-with-mucopolysaccharide-disease-type-iii-sanfilippo-syndrome-a-systematic-review
#20
C Wolfenden, A Wittkowski, D J Hare
The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD in MPS III and quality assessed a total of 16 studies. Results indicated that difficulties within speech, language and communication consistent with ASD were present in MPS III, whilst repetitive and restricted behaviours and interests were less widely reported...
August 30, 2017: Journal of Autism and Developmental Disorders
keyword
keyword
121117
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"