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Inborn Errors of Metabolism

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181. Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases (PubMed)

Integration of Proteomics and Metabolomics in Exploring Genetic and Rare Metabolic Diseases 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 (...) , 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 inborn errors of metabolism. Modern approaches enable detailed functional characterization of the pathogenic biochemical processes, as achieved

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2017 Kidney Diseases

182. Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. (PubMed)

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error 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

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2010 American Journal of Human Genetics

183. Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008 (PubMed)

Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008 Individual inborn errors 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

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2010 Annals of Saudi Medicine

184. Inborn Errors of Energy Metabolism Associated with Myopathies (PubMed)

Inborn Errors 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 inborn errors 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.

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2010 Journal of Biomedicine and Biotechnology

185. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment (PubMed)

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error 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

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2010 Journal of Inherited Metabolic Disease

186. Familial chronic acidosis due to an error in lactate and pyruvate metabolism. (PubMed)

Infant Intellectual Disability complications Ketoglutaric Acids urine Lactates blood Male Metabolism, Inborn Errors Muscles metabolism Muscular Diseases complications Neurologic Manifestations Obesity complications Ontario Pyruvates blood Seizures complications 1967 9 23 1967 9 23 0 1 1967 9 23 0 0 ppublish 6050895 PMC1923319 J Pediatr. 1962 Aug;61:165-80 13905026 J Pediatr. 1965 Jun;66:1004-16 14288452 Pediatrics. 1966 Jan;37(1):120-31 5323002 Arch Dis Child. 1965 Oct;40(213):492-501 5829993 Clin (...) Familial chronic acidosis due to an error in lactate and pyruvate metabolism. 6050895 1967 12 14 2018 11 13 0008-4409 97 13 1967 Sep 23 Canadian Medical Association journal Can Med Assoc J Familial chronic acidosis due to an error in lactate and pyruvate metabolism. 773-9 Haworth J C JC Ford J D JD Younoszai M K MK eng Journal Article Canada Can Med Assoc J 0414110 0008-4409 0 Ketoglutaric Acids 0 Lactates 0 Pyruvates AIM IM Acidosis complications genetics Female Humans Indians, North American

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1967 Canadian Medical Association Journal

187. Hair Amino Acids: Normal Values and Results in Metabolic Errors (PubMed)

Homocystinuria Humans Infant Infant, Newborn Male Metabolism, Inborn Errors metabolism Middle Aged Phenylalanine analysis Phenylketonurias metabolism Proteins analysis 1970 10 1 1970 10 1 0 1 1970 10 1 0 0 ppublish 5477681 PMC1647550 Arch Dis Child. 1968 Apr;43(228):211-6 5645693 Nature. 1968 May 18;218(5142):679 5690339 Acta Paediatr Scand. 1969 May;58(3):287-9 5783416 J Pediatr. 1969 Sep;75(3):463-78 5804194 Lancet. 1969 Oct 4;2(7623):748 4186193 Arch Dis Child. 1969 Dec;44(238):681-7 5356973 Arch Belg (...) Hair Amino Acids: Normal Values and Results in Metabolic Errors 5477681 1970 12 28 2018 11 13 1468-2044 45 243 1970 Oct Archives of disease in childhood Arch. Dis. Child. Hair amino acids: normal values and results in metabolic errors. 678-81 Van Sande M M eng Journal Article England Arch Dis Child 0372434 0003-9888 0 Amino Acids 0 Glutamates 0 Proteins 47E5O17Y3R Phenylalanine IM Adolescent Adult Amino Acids analysis Child Child, Preschool Female Glutamates analysis Hair analysis

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1970 Archives of Disease in Childhood

188. Diagnosis and treatment of metabolic errors. (PubMed)

Diagnosis and treatment of metabolic errors. 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 metabolic errors. 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, Inborn Errors diagnosis etiology therapy Phenylketonurias diagnosis

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1971 Canadian Medical Association Journal

189. The metabolic error in primary hyperoxaluria. (PubMed)

The metabolic error in primary hyperoxaluria. 5829992 1965 11 30 2018 11 13 0003-9888 40 213 1965 Oct Archives of disease in childhood Arch. Dis. Child. The metabolic error in primary hyperoxaluria. 485-91 Hockaday T D TD Clayton J E JE Smith L H LH Jr eng Journal Article England Arch Dis Child 0372434 0003-9888 0 Carbon Isotopes 0 Glycolates 0 Glyoxylates 0 Hippurates 0 Oxalates RMB44WO89X Hydroxyproline TE7660XO1C Glycine IM Adolescent Amino Acid Metabolism, Inborn Errors complications Carbon (...) Isotopes Family Glycine metabolism Glycolates metabolism Glyoxylates metabolism Hippurates metabolism Humans Hydroxyproline metabolism Kidney Calculi etiology Nephrocalcinosis etiology Oxalates metabolism Urine 1965 10 1 2001 3 28 10 1 1965 10 1 0 0 ppublish 5829992 PMC2019460 Ann Intern Med. 1961 Jul;55:70-80 13774084 Metabolism. 1960 Jan;9:52-8 13815869 J Biol Chem. 1954 Feb;206(2):587-96 13143017 Sem Hop. 1959 Jun 18;35(28/6):2023-32/SP 13675786 Pediatrics. 1960 Jun;25:1008-17 13854788 Proc Natl

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1965 Archives of Disease in Childhood

190. 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

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

2013 American Association of Clinical Endocrinologists

191. Genetic and metabolic testing on children with global developmental delay

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 = inborn errors 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. Inborn errors of metabolism (IEMs) are a diverse collection

2011 American Academy of Neurology

192. Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders (PubMed)

) 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 inborn errors 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 inborn errors of metabolism. NCG may have additional therapeutic potential in conditions such as hepatic hyperammonemic encephalopathy secondary to chemotherapies or other liver pathology.

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2016 Expert review of endocrinology & metabolism

193. On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism (PubMed)

On the origin of 3-methylglutaconic acid in disorders of mitochondrial energy metabolism 3-methylglutaconic acid (3MGA)-uria occurs in numerous inborn errors 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

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2016 Journal of Inherited Metabolic Disease

194. Metabolic Consequences of Heterozygous Hereditary Fructose Intolerance

(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, Inborn Errors 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, Inborn Errors Fructose Intolerance Fructose Metabolism, Inborn Errors Genetic Diseases, Inborn Carbohydrate Metabolism, Inborn Errors

2016 Clinical Trials

195. Evaluation of Potential Screening Tools for Metabolic Body Odor and Halitosis

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

2016 Clinical Trials

196. Genetic and Metabolic Disease in Children

. 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 (inborn errors 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

2016 Clinical Trials

197. Anti-oxLDL IgM Antibodies as a Novel Therapy for Metabolic Lipid Diseases

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, Inborn Errors (...) 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, Inborn Errors Lipid Metabolism, Inborn Errors Genetic Diseases, Inborn Metabolic Diseases Lipid Metabolism Disorders Antibodies Immunoglobulins Immunologic Factors Physiological Effects of Drugs

2016 Clinical Trials

198. Gestational dating by metabolic profile at birth: a California cohort study. (PubMed)

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 inborn errors 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

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2016 American Journal of Obstetrics and Gynecology

199. Reduced bone mineral density in glycogen storage disease type III: Evidence for a possible connection between metabolic imbalance and bone homeostasis. (PubMed)

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 inborn error 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

2016 Bone

200. Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum (PubMed)

metabolism. The importance of peroxisomes for human health and development is exemplified by the existence of a large number of inborn errors 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

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2016 Frontiers in Cell and Developmental Biology

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