AnatomyOrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and PsychologyPhenomena and ProcessesInformation ScienceNamed GroupsHealth CareGeographicals
Metabolism, Inborn ErrorsMetal Metabolism, Inborn ErrorsMetalsMetallothioneinCopperAmino Acid Metabolism, Inborn ErrorsLipid Metabolism, Inborn ErrorsPurine-Pyrimidine Metabolism, Inborn ErrorsNeonatal ScreeningSteroid Metabolism, Inborn ErrorsCarbohydrate Metabolism, Inborn ErrorsBrain Diseases, Metabolic, InbornUrea Cycle Disorders, InbornArgininosuccinic AciduriaHyperammonemiaEnergy MetabolismLipid MetabolismPhenylketonuriasMutationSmith-Lemli-Opitz SyndromeInfant, NewbornOrnithine Carbamoyltransferase Deficiency DiseaseLiverHomocystinuriaVitamin A DeficiencyHomogentisate 1,2-DioxygenaseRefractive Errorsalpha-GalactosidasePyruvate Metabolism, Inborn ErrorsDeficiency DiseasesCandidiasis, Chronic MucocutaneousFabry DiseaseMethylmalonic AcidMolecular Sequence DataZincBrain Diseases, MetabolicCarnitineAustralian Capital TerritoryArgininosuccinic AcidHydroxocobalaminHypophosphatasiaIsovaleryl-CoA Dehydrogenasealpha 1-Antitrypsin DeficiencyVitamin B 12 DeficiencyMethylmalonyl-CoA MutaseOxidoreductases Acting on CH-CH Group DonorsIronPentanoic AcidsDiagnostic ErrorsMetabolismImmunologic Deficiency SyndromesMice, KnockoutPhenotypeGlutaratesGlucoseVitamin D DeficiencyFructose Metabolism, Inborn ErrorsAmidinotransferasesMetabolic DiseasesBase SequenceIron Metabolism DisordersHomozygoteMaple Syrup Urine DiseaseFailure to ThrivePedigreeFolic Acid DeficiencyGlutaryl-CoA DehydrogenaseLong-Chain-3-Hydroxyacyl-CoA DehydrogenaseMultiple Acyl Coenzyme A Dehydrogenase DeficiencyPorphyria, ErythropoieticModels, BiologicalCitrullinemiaMetabolic Networks and PathwaysThiamine DeficiencyPyruvate Dehydrogenase Complex Deficiency DiseaseTime FactorsHyperargininemiaMagnetic Resonance SpectroscopyAlkaptonuriaAcyl-CoA DehydrogenaseIgA DeficiencyRare DiseasesMucopolysaccharidosesAmino Acid SequenceFibroblastsKineticsOxidation-ReductionLysosomal Storage DiseasesAdenylosuccinate LyaseBrainFatty AcidsVitamin B 12Glucosephosphate Dehydrogenase DeficiencyOrnithine-Oxo-Acid TransaminaseMass SpectrometryCobaltHeterozygoteConsanguinityOxidoreductasesGenetic Diseases, Inborn
DisordersVitaminAscorbic acid deficEtiologyCarbohydrateMitochondrial dysfunctionDiseasesAutosomal recessive disorderDisorderLysosomalAbnormalitiesIodine deficiencyEnzymesCopperSupplementationAmino acid metabSynthesisDysfunctionIron metabolismMagnesium deficiencyFattySerumInterventionsZincMCADDBiochemicalMalnutritionGeneticOverloadSigns and symptomsNutritionalCholesterolSevereImmuneMildToxic metalsRefersLife Sciences
Disorders17
  • Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
  • Mutations in a second, closely related copper-transporting ATPase, ATP7A, cause a spectrum of copper deficiency disorders that include Menkes disease, occipital horn syndrome , and ATP7A-related distal motor neuropathy. (nih.gov)
  • Disorders of heavy metals. (nih.gov)
  • Wilson disease, menkes disease, occipital horn syndrome, and xlinked distal hereditary motor neuropathy are genetic disorders of copper metabolism that span a broad spectrum of neurological dysfunction table 180. (web.app)
  • Dysmorphic face may be seen in patients with propionic and methylmalonic acidemias, multiple coenzyme a dehydrogenase deficiency, peroxisomal disorders, and maple syrup urine disease. (web.app)
  • Amino Acid Transport Disorders, Inborn" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (ouhsc.edu)
  • This graph shows the total number of publications written about "Amino Acid Transport Disorders, Inborn" by people in this website by year, and whether "Amino Acid Transport Disorders, Inborn" was a major or minor topic of these publications. (ouhsc.edu)
  • Below are the most recent publications written about "Amino Acid Transport Disorders, Inborn" by people in Profiles. (ouhsc.edu)
  • Classify works on calcium metabolism disorders in QU 260.5.C2 . (nih.gov)
  • Classify works on glucose metabolism disorders in QU 260.5.G6 . (nih.gov)
  • Classify works on inborn errors of metabolism disorders in QU 265 . (nih.gov)
  • Classify works on inborn errors of lipid metabolism disorders in QU 265.5.L5 . (nih.gov)
  • Babies with metabolic disorders, also called "inborn errors of metabolism," can suffer devastating injuries when their metabolic condition is not diagnosed and treated promptly. (rayneslaw.com)
  • Metabolic disorders may not be identified at birth because the lab that performs the test or the infant's doctor makes a medical error. (rayneslaw.com)
  • Thyroid disorders, disorders of calcium metabolism, diabetes mellitus. (dmaedu.com)
  • Iodine deficiency disorders (IDD), caused mainly by a low dietary supply of iodine, refer to all of the consequences of iodine deficiency in a population that can be prevented by ensuring that the population has an adequate intake of iodine. (edu.au)
  • Iodine deficiency disorders (IDD) is the single most common cause of preventable mental retardation and brain damage in the world. (edu.au)
Vitamin28
  • Scurvy is a state of dietary deficiency of vitamin C (ascorbic acid). (medscape.com)
  • Consumption of fruits and vegetables or diets fortified with vitamin C is essential to avoid ascorbic acid deficiency. (medscape.com)
  • Although scurvy is uncommon, it still occurs and can affect adults and children who have chronic dietary vitamin C deficiency (see the image below). (medscape.com)
  • One study identified a genetic polymorphism of the human plasma protein haptoglobin, Hp 2, which may be an important non-nutritional modifying factor in the pathogenesis of vitamin C deficiency. (medscape.com)
  • The Hp 2-2 phenotype is present in 35% of whites and 50% of South Asians and East Asians and may help identify patients who are more prone to develop clinically significant vitamin C deficiency. (medscape.com)
  • Vitamin C is required as a redox agent, reducing metal ions in many enzymes and removing free radicals. (medscape.com)
  • a vitamin C deficiency results in impaired collagen synthesis. (medscape.com)
  • The typical pathologic manifestations of vitamin C deficiency, including poor wound healing, are noted in collagen-containing tissues and in organs and tissues such as skin, cartilage, dentine, osteoid, and capillary blood vessels. (medscape.com)
  • Vitamin, mineral and nutrients deficiencies underlie many common conditions. (trumed.ca)
  • In many cases for adults, our Naturopathic doctors prefer to give an empiric trial of IV B-Vitamins to assess the role of B-Vitamin deficiency however if we require more specific quantification, Organic Acids can be helpful as blood based B Vitamin Testing can be extremely expensive (other than B12). (trumed.ca)
  • Although the clinical manifestations are unclear, vitamin C is a cofactor in the metabolism of tyrosine and cholesterol and the synthesis of carnitine, neurotransmitters (eg, norepinephrine), peptide hormones, corticosteroids, and aldosterone. (medscape.com)
  • This may contribute to the anemia seen with vitamin C deficiency, in which the availability of intracellular iron is reduced. (medscape.com)
  • However, there are some subcomponents of ASD that are approved by the FDA - allergies, inflammatory bowel disease and vitamin deficiencies. (nutrifarmacy.com)
  • Vitamin and nutrition blood tests can detect gluten, mineral, iron, calcium and other deficiencies, telling you which vitamins you lack and which you are getting enough of through natural sources. (walkinlab.com)
  • For a cheap and convenient way to take control of your health, order online vitamin deficiency test or a nutrition blood tests or panels from Walk-In Lab. (walkinlab.com)
  • The Vitamin D 25-Hydroxy Blood Test determines Vitamin D deficiency. (walkinlab.com)
  • This Vitamin B12 Blood Test measures the vitamin B12 levels in the blood to help screen for a deficiency. (walkinlab.com)
  • This Vitamin B12 and Folate Blood Test Panel measure your vitamin B12 and folate levels to screen for a deficiency. (walkinlab.com)
  • The Vitamin Deficiency and Wellness Blood Test Panel helps to screen for vitamin deficiency and assess overall health and wellness. (walkinlab.com)
  • Classify works on vitamin A deficiency in QU 167 . (nih.gov)
  • Classify works on vitamin B deficiency in QU 187-194 . (nih.gov)
  • Vitamin B 6 and its derivative pyridoxal 5'-phosphate (PLP) are essential to over 100 enzymes mostly involved in protein metabolism . (oregonstate.edu)
  • Growing evidence from experimental and clinical studies suggests that systemic inflammation underlying most chronic diseases may impair vitamin B 6 metabolism. (oregonstate.edu)
  • Pharmacologic doses of vitamin B 6 are used to treat seizures in rare inborn errors of vitamin B 6 metabolism. (oregonstate.edu)
  • Several medications, including anti- tuberculosis drugs, anti-parkinsonians, nonsteroidal anti- inflammatory drugs, and oral contraceptives, may interfere with vitamin B 6 metabolism. (oregonstate.edu)
  • Vitamin B 6 deficiency may impair hemoglobin synthesis and lead to microcytic anemia (3) . (oregonstate.edu)
  • Deficiency in another B vitamin, niacin , is easily prevented by adequate dietary intakes. (oregonstate.edu)
  • Among its many effects on cell function and metabolism, Vitamin C has shown, in vitro, a powerful anticancer effect against a number of human tumour cell lines, including myeloid leukaemia. (scholars.direct)
Ascorbic acid defic1
Etiology2
  • 1) Elucidating the etiology of mitochondrial Complex I deficiencies and oxygen dyshomeostasis in neurodegeneration. (uc.edu)
  • The age of presentation depends on the underlying etiology of the zinc deficiency. (medscape.com)
Carbohydrate2
  • [ 7 ] The enzyme L-gluconolactone oxidase, which would usually catalyze the conversion of L-gluconogammalactone to L-ascorbic acid, is defective due to a mutation or inborn error in carbohydrate metabolism. (medscape.com)
  • Classify works carbohydrate metabolism inborn errors in QU 265.5.C3 . (nih.gov)
Mitochondrial dysfunction2
  • Anthony Grillo joined the University of Cincinnati in the Department of Chemistry as an Assistant Professor in 2022 with research interests in understanding the molecular underpinnings of the role of mitochondrial dysfunction in disease with an emphasis on micronutrient (e.g. metals, oxygen, vitamins, etc.) metabolism. (uc.edu)
  • Dr. Grillo's background in biochemistry, chemical biology, and metabolic physiology make him excited to perform interdisciplinary research centered on revealing how mitochondrial dysfunction alters micronutrient metabolism (e.g. metals, oxygen, vitamins, etc.) to elicit neurodegeneration in age-related, genetic, or environmental-induced disease in multiple in vitro and in vivo models. (uc.edu)
Diseases7
  • Interrelations between Essential Metal Ions and Human Diseases. (wikipedia.org)
  • 2) Uncovering the role of transition metals in age-related diseases. (uc.edu)
  • However, a number of other inborn errors of metabolism or diseases characterized by malnutrition may mimic acrodermatitis enteropathica and these have been termed acrodermatitis dysmetabolica. (medscape.com)
  • Zinc deficiency causes all the aforementioned clinical symptoms, which are easily and rapidly reversible with zinc supplementation, unless other concurrent diseases are present (eg, cystic fibrosis). (medscape.com)
  • Our Naturopathic Doctors most commonly use Urine Heavy Metal Testing for evaluation of stubborn cases of fatigue, and some autoimmune diseases as well as some cases of cancer when the history is suggestive of occupational or environmental exposures. (trumed.ca)
  • We may consider metals in some cases of Autism and Neurodegenerative diseases like Alzheimer's. (trumed.ca)
  • Classify general works on deficiency diseases in QU 246 . (nih.gov)
Autosomal recessive disorder1
  • Acrodermatitis enteropathica (AE) classically refers to the inborn error of zinc metabolism that is inherited as an autosomal recessive disorder. (medscape.com)
Disorder5
  • Transient, symptomatic zinc deficiency has been reported in breastfed, low-birthweight, premature infants and should be considered a rare but important disorder hallmarked by periorificial and acral dermatitis, with symptoms disappearing when nursing ends. (medscape.com)
  • Haemochromatosis type 3 (or Hemochromatosis due to defect in transferrin receptor 2 [2] )is a type of iron overload disorder associated with deficiencies in transferrin receptor 2 . (mdwiki.org)
  • [6] Hereditary haemochromatosis is a congenital disorder which affects the regulation of iron metabolism thus causing increased gut absorption of iron and a gradual build-up of pathologic iron deposits in the liver and other internal organs, joint capsules and the skin. (mdwiki.org)
  • In menkes disease, which is a copper deficiency disorder, many of the biochemical and clinical symptoms are attributable to reduced levels of critical copperrequiring enzymes. (web.app)
  • Atp7a is a coppertransporting ptype atpase that is defective in the copper deficiency disorder, menkes disease. (web.app)
Lysosomal1
  • Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates. (umassmed.edu)
Abnormalities1
  • A natural mouse model of OHS, the so-called mottled blotchy model, recapitulates the connective tissue abnormalities, DBH deficiency and mild CNS damage seen in humans. (wikipedia.org)
Iodine deficiency9
  • Urine Iodine Testing - 35% of the world suffers from iodine deficiency! (trumed.ca)
  • Our Naturopathic doctors have found Iodine deficiency to be an extremely common cause of Fatigue despite normal Thyroid tests so it's a bit of a secret weapon in the treatment of fatigue in our Edmonton patients. (trumed.ca)
  • Iodine deficiency is the most frequent cause of preventable brain damage in childhood. (edu.au)
  • In areas of endemic iodine deficiency, where soil and therefore crops and grazing animals do not provide sufficient dietary iodine to the populace, food fortification and supplementation have proven highly successful and sustainable interventions. (edu.au)
  • Before mandatory iodine fortification was introduced large proportions of the Australian and New Zealand population had inadequate iodine intakes based upon national surveys measuring median urinary iodine concentration (MUIC) in schoolchildren, an indicator of overall population status, confirmed mild iodine deficiency in both countries. (edu.au)
  • Association of Maternal Iodine Status With Child IQ: A Meta-Analysis of Individual Participant Data [2] Although the consequences of severe iodine deficiency are beyond doubt, the effects of mild to moderate iodine deficiency in pregnancy on child neurodevelopment are less well established. (edu.au)
  • CONCLUSIONS: Fetal brain development is vulnerable to mild to moderate iodine deficiency, particularly in the first trimester. (edu.au)
  • Our results show that potential randomized controlled trials investigating the effect of iodine supplementation in women with mild to moderate iodine deficiency on child neurodevelopment should begin supplementation not later than the first trimester. (edu.au)
  • The Association of Maternal Iodine Status in Early Pregnancy with Thyroid Function in the Swedish Environmental Longitudinal, Mother and Child, Asthma and Allergy Study [3] "Severe maternal iodine deficiency can impact fetal brain development through effects on maternal and/or fetal thyroid hormone availability. (edu.au)
Enzymes3
  • Importantly, Mn activates enzymes associated with fatty acid metabolism and protein synthesis. (naturalmedicineinsights.com)
  • 3 A deficiency of Mn results in abnormal skeletal development because it is a preferred cofactor of enzymes called glycosyltransferases. (naturalmedicineinsights.com)
  • The many biochemical reactions catalyzed by PLP-dependent enzymes are involved in essential biological processes, such as hemoglobin and amino acid biosynthesis, as well as fatty acid metabolism . (oregonstate.edu)
Copper6
  • It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene. (wikipedia.org)
  • It is characterized by a deficiency in biliary copper excretion that causes deformations in the skeleton. (wikipedia.org)
  • Inborn errors of copper metabolism. (nih.gov)
  • Tetrathiomolybdate is an established copper chelator, thus the mechanism of molybdenum toxicity in this chemical form most likely is due to molybdenum-induced copper deficiency. (cdc.gov)
  • Copper is an essential transition metal that permits the facile transfer of electrons in a series of critical biochemical pathways. (web.app)
  • Mn is essential in bone metabolism along with cofactors, calcium, copper and zinc. (naturalmedicineinsights.com)
Supplementation2
  • Do not use if you have primary systemic L-carnitine deficiency or secondary L-carnitine deficiency (inborn errors of metabolism) for which supplementation should be prescribed by a health care practitioner. (atplab.com)
  • A Prospective, Randomized, Interventional Study of Oral Iron Supplementation Comparing Daily Dose with Alternate Day Regimen Using Hepcidin as a Biomarker in Iron Deficiency Anemia. (mcmaster.ca)
Amino acid metab2
Synthesis2
  • Uric acid is present in all body fluids, and the serum level is determined by its rate of synthesis, excretion, and metabolism. (bladeresearchinc.com)
  • It is normally involved in the metabolism of every cell of the body, especially affecting DNA synthesis and regulation, but also fatty acid synthesis and energy production. (wikidoc.org)
Dysfunction1
Iron metabolism1
Magnesium deficiency2
Fatty1
Serum1
  • In a nursing mother, this effectively decreases the zinc transfer from serum to breast milk, producing a transient zinc deficiency in an exclusively breastfed child. (medscape.com)
Interventions2
  • 3) Discovering novel interventions to treat mitochondrial inborn errors of metabolism. (uc.edu)
  • It is well-established that implementation of a diet restricted in PHE early in life can significantly reduce the mental deficiencies associated with this disease prior to dietary interventions. (nih.gov)
Zinc6
  • Acrodermatitis enteropathica (AE) is the clinical manifestation of zinc deficiency. (medscape.com)
  • [ 1 ] Zinc deficiency also produces a loss of epidermal Langerhans cells. (medscape.com)
  • Undiagnosed food allergy can lead to profound zinc deficiency. (medscape.com)
  • Zinc deficiency is an uncommon nutritional deficiency that can be inherited or acquired. (medscape.com)
  • Acquired zinc deficiency is more prevalent and may present in the same fashion. (medscape.com)
  • Acquired zinc deficiency may be due to inadequate intake, malabsorption, excessive loss, or a combination of these factors. (medscape.com)
MCADD1
  • Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. (musc.edu)
Biochemical1
  • Many other more subtle kinds of biochemical B-12 deficiencies , and biochemical effects from them, have since been elucidated. (wikidoc.org)
Malnutrition1
  • See 21 Hidden Clues to Diagnosing Nutritional Deficiencies , a Critical Images slideshow, to help identify clues to conditions associated with malnutrition. (medscape.com)
Genetic3
  • The genetic role may not be so much as an inborn error(s) but a strongly predisposing factor. (nutrifarmacy.com)
  • Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. (musc.edu)
  • Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (nih.gov)
Overload1
  • The Iron and Total Iron-Binding Capacity (TIBC) Blood Test assesses the body's ability to bind and transport iron in the blood, which can help identify an iron deficiency, anemia, or overload. (walkinlab.com)
Signs and symptoms1
  • Such individuals also often endure inconvenient dysautonomic signs and symptoms related to a partial deficiency in dopamine-β-hydroxylase (DBH) activity. (wikipedia.org)
Nutritional1
  • Our Naturopaths also use Organic Acids in our pediatric Autism spectrum patients as an indication of nutritional as well as in-born metabolic errors and microbial overgrowths. (trumed.ca)
Cholesterol3
  • Consequently, the conversion of isopentenyl diphosphate to dimethylallyl diphosphate (DMAPP) as part of the cholesterol metabolism is prevented in these adults. (nature.com)
  • Wild-type IDI1 and cholesterol metabolism related serological parameters are normal in all adults. (nature.com)
  • Human IDI2 is expressed only in skeletal-myocellular peroxisomes and instant spikes in isoprene exhalation during muscle activity underpins its origin from muscular lipolytic cholesterol metabolism. (nature.com)
Severe1
  • A severe deficiency in B12 can cause pernicious anemia and funicular myelosis. (wikidoc.org)
Immune2
Mild1
  • Hospital admission is not necessary for most children with Inadequate Growth and is often deleterious to the long-term care of many children with mild to moderate intake deficiency. (ucsfbenioffchildrens.org)
Toxic metals1
  • Usually, chronic, low-level exposure to toxic metals that can result in significant retention in the body like from drinking water or dental amalgums. (trumed.ca)
Refers1
Life Sciences1