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Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases Inherited metabolic disorders or inbornerrors 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. Inbornerrors of metabolism constitute a significant proportion of genetic diseases (...) , also collected in small samples like dried blood spots, have been facilitated by the use of mass spectrometry-based techniques. These approaches have enabled the timely diagnosis of inherited metabolic disorders, thereby facilitating early therapeutic intervention. Due to its analytical features, proteomics is suited for the basic investigation of inbornerrors of metabolism. Modern approaches enable detailed functional characterization of the pathogenic biochemical processes, as achieved
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An InbornError of Endocannabinoid Metabolism. Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Previously, we mapped this Refsum-like disorder to a 16 Mb (...) region on chromosome 20. Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries. The ABHD12 enzyme was recently shown to hydrolyze 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors CB1 and CB2. Our data therefore represent an example of an inherited disorder related to endocannabinoid metabolism. The endocannabinoid system
Incidence and patterns of inbornerrors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008 Individual inbornerrors of metabolism (IEM) are rare disorders, but may not be that uncommon in our patient population. We report the incidence of IEM in a defined cohort of births at the Saudi Aramco medical facilities in the Eastern Province of Saudi Arabia over 25 years.The records of all patients diagnosed with IEM from 1 January 1983 to 31 December 2008 were reviewed and categorized (...) according to accumulated or deficient metabolites into small-molecule disorders (aminoacidemia, organic acidopathies [OA], urea cycle defects, fatty acid oxidation, and carbohydrate metabolic disorders) and other disorders, including glycogen and lysosomal storage disorders (LSDs), and organelle disorders.During the study period, 165,530 Saudi Arabian infants were born at Saudi Aramco and 248 were diagnosed with an IEM, corresponding to a cumulative incidence of 150 cases per 100,000 live births. Small
InbornErrors of Energy Metabolism Associated with Myopathies Inherited neuromuscular disorders affect approximately one in 3,500 children. Structural muscular defects are most common; however functional impairment of skeletal and cardiac muscle in both children and adults may be caused by inbornerrors of energy metabolism as well. Patients suffering from metabolic myopathies due to compromised energy metabolism may present with exercise intolerance, muscle pain, reversible or progressive (...) muscle weakness, and myoglobinuria. In this review, the physiology of energy metabolism in muscle is described, followed by the presentation of distinct disorders affecting skeletal and cardiac muscle: glycogen storage diseases types III, V, VII, fatty acid oxidation defects, and respiratory chain defects (i.e., mitochondriopathies). The diagnostic work-up and therapeutic options in these disorders are discussed.
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inbornerror of metabolism with potential treatment We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild form of the multiple acyl-CoA dehydrogenation defect (MADD
Diagnosis and treatment of metabolicerrors. 5580749 1971 07 27 2018 11 13 0008-4409 104 12 1971 Jun 19 Canadian Medical Association journal Can Med Assoc J Diagnosis and treatment of metabolicerrors. 1064-5 eng Journal Article Canada Can Med Assoc J 0414110 0008-4409 AIM IM Diet Therapy Female Humans Infant, Newborn Infant, Newborn, Diseases diagnosis therapy Intellectual Disability etiology prevention & control Metabolism, InbornErrors diagnosis etiology therapy Phenylketonurias diagnosis
Clinical Practice Guidelines for Healthy Eating for the Prevention and Treatment of Metabolic and Endocrine Diseases in Adults: Cosponsored by American Association of Clinical Endocrinologists/American College of Endocrinology and The Obesity Society ENDOCRINE PRACTICE Vol 19 (Suppl 3) September/October 2013 1 AACE/ACE Guidelines CLINICAL PRACTICE GUIDELINES FOR HEALTHY EATING FOR THE PREVENTION AND TREATMENT OF METABOLIC AND ENDOCRINE DISEASES IN ADULTS: COSPONSORED BY THE AMERICAN ASSOCIATION (...) = hemoglobin A1c; AACE = American Association of Clinical Endocrinologists; ADA = American Diabetes Association; AHA = American Heart Association; AI = adequate intake; ALA = alpha-linoleic acid; BEE = basal energy expenditure; BEL = “best evidence” rating level; BMI = body mass index; BMR = basal metabolic rate; BP = blood pres- sure; CCM = Chronic Care Model; CCS = consecutive case studies; CHD = coronary heart disease; CI = con- fidence interval; CKD = chronic kidney disease; CPG = clinical practice
factors considered in planning the laboratory evaluation of such children. GLOSSARY AAN = American Academy of Neurology ; BAC = bacterial artificial chromosome ; CDG = congenital disorders of glycosylation ; DQ = developmental quotient ; DXL = definite X-linkage ; GDD = global developmental delay ; ID = intellectual disability ; IEM = inbornerrors of metabolism ; PXL = possible X-linkage ; UXL = unknown X-linkage ; XLID = X-linked intellectual disability Children aged less than 6 years are considered (...) to 10% of all cases of GDD/ID. Testing of XLID genes has a yield of 42% in males from definitely X-linked families and of 17% in males from possibly X-linked families (Class III). FMR1 testing has a combined yield of at least 2% in male and female subjects with mild GDD/ID (Class II and III). MeCP2 mutations are found in 1.5% of girls with moderate/severe GDD/ID and in less than 0.5% of males with GDD/ID (Class III). Metabolic testing. Inbornerrors of metabolism (IEMs) are a diverse collection
) for the treatment of NAGS deficiency as well as for the treatment of hyperammonenia in propionic, methylmalonic and isovaleric acidemias in Europe.The history, mechanism of action, and efficacy of this new drug are described. Moreover, clinical utility of NCG in a variety of inbornerrors of metabolism with secondary NAGS deficiency is discussed.NCG has favorable pharmacological features including better bioavailability compared to NAG. The clinical use of NCG has proven to be so effective as to make dietary (...) protein restriction unnecessary for patients with NAGS deficiency. It has been also demonstrated to be effective for hyperammonemia secondary to other types of inbornerrors of metabolism. NCG may have additional therapeutic potential in conditions such as hepatic hyperammonemic encephalopathy secondary to chemotherapies or other liver pathology.
On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism 3-methylglutaconic acid (3MGA)-uria occurs in numerous inbornerrors of metabolism (IEM) associated with compromised mitochondrial energy metabolism. This organic acid arises from thioester cleavage of 3-methylglutaconyl CoA (3MG CoA), an intermediate in leucine catabolism. In individuals harboring mutations in 3MG CoA hydratase (i.e., primary 3MGA-uria), dietary leucine is the source of 3MGA. In secondary (...) 3MGA-uria, however, no leucine metabolism defects have been reported. While others have suggested 3MGA arises from aberrant isoprenoid shunting from cytosol to mitochondria, an alternative route posits that 3MG CoA arises in three steps from mitochondrial acetyl CoA. Support for this biosynthetic route in IEMs is seen by its regulated occurrence in microorganisms. The fungus, Ustilago maydis, the myxobacterium, Myxococcus xanthus and the marine cyanobacterium, Lyngbya majuscule, generate 3MG CoA
(by 6,6-2H2-glucose dilution), carbohydrate and lipid oxidation, lipids, uric acid, lactate, creatinine, urea and amino acids were monitored for 6 hours. Condition or disease Intervention/treatment Phase Hereditary Fructose Intolerance Fructose Metabolism, InbornErrors Glucose Metabolism Disorders Other: Test meal Not Applicable Study Design Go to Layout table for study information Study Type : Interventional (Clinical Trial) Actual Enrollment : 18 participants Intervention Model: Single Group (...) Update Posted: December 29, 2017 Last Verified: December 2017 Individual Participant Data (IPD) Sharing Statement: Plan to Share IPD: No Additional relevant MeSH terms: Layout table for MeSH terms Metabolic Diseases Glucose Metabolism Disorders Metabolism, InbornErrors Fructose Intolerance Fructose Metabolism, InbornErrors Genetic Diseases, Inborn Carbohydrate Metabolism, InbornErrors
medical condition - expressed their interest in trying gastrointestinal and nutritional diagnostic tests offered by Biolab Medical Unit. Our retrospective analysis will determine if these tests were useful as potential screening tools for metabolic body odor and halitosis. Condition or disease Nutritional and Metabolic Diseases Detailed Description: Many yet uncharacterized medical conditions including inborn and acquired errors of metabolism or skewed microbiome could be responsible for unpredictable (...) Evaluation of Potential Screening Tools for Metabolic Body Odor and Halitosis Evaluation of Potential Screening Tools for Metabolic Body Odor and Halitosis - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more
. Although the majority of these conditions are rare, they collectively account for a disproportionate amount of illness and death in children. Discovery of the genetic basis of rare conditions often uncovers the pathophysiological basis of common diseases. This is particularly true for genetic diseases of impaired metabolism (inbornerrors of metabolism, IEMs). There are many more genetic and metabolic disorders yet to be discovered. Of approximately 20,000 known human genes, less than one-fifth (...) Southwestern Medical Center ClinicalTrials.gov Identifier: Other Study ID Numbers: STU 112014-001 First Posted: January 8, 2016 Last Update Posted: May 2, 2018 Last Verified: May 2018 Individual Participant Data (IPD) Sharing Statement: Plan to Share IPD: Undecided Keywords provided by University of Texas Southwestern Medical Center: Metabolism Genetics Metabolomics Genomics Additional relevant MeSH terms: Layout table for MeSH terms Metabolic Diseases Genetic Diseases, Inborn
Last Update Posted : March 15, 2016 Sponsor: Universitaire Ziekenhuizen Leuven Information provided by (Responsible Party): Annick Vanclooster, Universitaire Ziekenhuizen Leuven Study Details Study Description Go to Brief Summary: To test whether active pneumococci immunization can alleviate inflammation and improve cholesterol metabolism in lysosomal lipid storage diseases and associated metabolic disorders. Condition or disease Intervention/treatment Phase Lipid Metabolism, InbornErrors (...) Identifier: Other Study ID Numbers: Pfizer-Prevenar13-2015 First Posted: March 14, 2016 Last Update Posted: March 15, 2016 Last Verified: March 2016 Individual Participant Data (IPD) Sharing Statement: Plan to Share IPD: Undecided Additional relevant MeSH terms: Layout table for MeSH terms Metabolism, InbornErrors Lipid Metabolism, InbornErrors Genetic Diseases, InbornMetabolic Diseases Lipid Metabolism Disorders Antibodies Immunoglobulins Immunologic Factors Physiological Effects of Drugs
as born preterm, which has both short- and long-term clinical care and public health implications.We sought to evaluate whether metabolic markers in newborns measured as part of routine screening for treatable inbornerrors of metabolism can be used to develop a population-level metabolic gestational dating algorithm that is robust despite intrauterine growth restriction and can be used when fetal ultrasound dating is not available. We focused specifically on the ability of these markers (...) Gestational dating by metabolic profile at birth: a California cohort study. Accurate gestational dating is a critical component of obstetric and newborn care. In the absence of early ultrasound, many clinicians rely on less accurate measures, such as last menstrual period or symphysis-fundal height during pregnancy, or Dubowitz scoring or the Ballard (or New Ballard) method at birth. These measures often underestimate or overestimate gestational age and can lead to misclassification of babies
Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis. Glycogen storage disease type III (GSDIII) is an inbornerror of carbohydrate metabolism caused by deficient activity of glycogen debranching enzyme (GDE). It is characterized by liver, cardiac muscle and skeletal muscle involvement. The presence of systemic complications such as growth retardation, ovarian polycystosis, diabetes mellitus (...) and osteopenia/osteoporosis has been reported. The pathogenesis of osteopenia/osteoporosis is still unclear.The aim of the current study was to evaluate the bone mineral density (BMD) in GSDIII patients and the role of metabolic and endocrine factors and physical activity on bone status.Nine GSDIII patients were enrolled (age 2-20years) and compared to eighteen age and sex matched controls. BMD was evaluated by Dual-emission-X-ray absorptiometry (DXA) and Quantitative ultrasound (QUS). Clinical
metabolism. The importance of peroxisomes for human health and development is exemplified by the existence of a large number of inbornerrors of peroxisome metabolism in which there is an impairment in one or more of the metabolic functions of peroxisomes. Although the clinical signs and symptoms of affected patients differ depending upon the enzyme which is deficient and the extent of the deficiency, the disorders involved are usually (very) severe diseases with neurological dysfunction and early death (...) Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid beta-oxidation; (3.) bile acid synthesis; (4.) docosahexaenoic acid (DHA) synthesis; (5.) fatty acid alpha-oxidation; (6.) glyoxylate metabolism; (7.) amino acid degradation, and (8.) ROS/RNS