iodine and Metabolism, Inborn Errors studies

Iodine: A nonmetallic element of the halogen group that is represented by the atomic symbol I, atomic number 53, and atomic weight of 126.90. It is a nutritionally essential element, especially important in thyroid hormone synthesis. In solution, it has anti-infective properties and is used topically.
diiodine : Molecule comprising two covalently bonded iodine atoms with overall zero charge..

Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Research Excerpts

Excerpt	Relevance	Reference
" This was not considered to be a factor in the present case since the discovery of a goitre in the patient in association with an iodine dysfunction uncovered a Pendred's syndrome as the cause for the patient's hearing loss."	3.65	[A medical-legal question of hearing impairment following vaccination (author's transl)]. ( von Deuster, C, 1976)
"Expanded newborn screening of inborn errors of metabolism (IEM) based on tandem mass spectrometry (MS/MS) technology is one of the most successful preventative healthcare initiatives for presymptomatic diagnosis and treatment of rare yet treatable genetic diseases in the population."	1.51	New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS). ( Britz-McKibbin, P; Shanmuganathan, M, 2019)
"Two patients suffering from recurrent bacterial infections were studied: a boy and a girl from one family, children of apparently healthy parents."	1.26	Defective initiation of the metabolic stimulation in phagocytizing granulocytes: a new congenital defect. ( Homan-Müller, JW; Roos, D; van Schaik, ML; Weemaes, CM; Weening, RS, 1976)

Timeframe	Studies, this research(%)	All Research%
pre-1990	48 (84.21)	18.7374
1990's	3 (5.26)	18.2507
2000's	3 (5.26)	29.6817
2010's	2 (3.51)	24.3611
2020's	1 (1.75)	2.80

Authors	Studies
Gong, L	1
Yang, N	1
Zhao, J	1
Tang, Y	1
Li, L	1
Yang, H	1
Kong, Y	1
Bizhanova, A	1
Kopp, P	2
WIENER, JD	2
LINDEBOOM, GA	1
Szinnai, G	1
Kosugi, S	1
Derrien, C	1
Lucidarme, N	1
David, V	1
Czernichow, P	1
Polak, M	1
Gonzalez Trevino, O	1
Karamanoglu Arseven, O	1
Ceballos, CJ	1
Vives, VI	1
Ramirez, RC	1
Gomez, VV	1
Medeiros-Neto, G	1
von Deuster, C	1
Weening, RS	1
Roos, D	1
Weemaes, CM	1
Homan-Müller, JW	1
van Schaik, ML	1
Monaco, F	1
Andreoli, M	1
van Jaarsveld, PP	1
Albrecht, CF	1
Theron, CN	1
van Zyl, A	1
Hayek, A	1
Stanbury, JB	2
Rochiccioli, P	1
Dutau, G	1
Harden, RM	2
Alexander, WD	2
Papadopoulos, S	2
Harrison, MT	1
Macfarlane, S	2
Negri, M	1
De Luca, F	1
Cramarossa, L	1
Benedetti, GA	1
Lehnhardt, E	1
Niall, HD	1
Wellby, ML	1
Hetzel, BS	1
Hudson, B	1
Chenoweth, RA	1
Hagen, GA	1
Niepomniszcze, H	1
Haibach, H	1
Bigazzi, M	2
Hati, R	1
Rapoport, B	1
Jimenez, C	1
DeGroot, LJ	3
Frawley, TF	1
Scriba, PC	1
Hamada, T	1
Matsumura, T	1
Yahata, M	1
Riccabona, G	1
Bauer, H	1
Lugger, LJ	1
Voss, C	1
Hartmann, N	1
Köbberling, J	1
Limbert, E	1
Botelho, L	1
Sobrinho, L	1
Yoshimura, M	1
Miyazaki, T	1
Shiomi, K	1
Hachiya, T	1
Koshichi, Y	1
Skorodok, LM	1
Sinitskiĭ, IuF	1
Rassmagina, NV	1
Nagayama, T	1
Matsumoto, H	1
McGirr, EM	2
Thomson, JA	2
Rhodes, BA	1
Pincus, SH	1
Klebanoff, SJ	1
Nakajima, H	1
Niimi, H	1
Fujimori, M	1
Refetoff, S	1
Benard, B	1
DeWind, LT	1
Struwe, FE	1
Seseke, G	1
Kempe, H	1
Hoffmann, G	1
Abdel-Wahab, MF	2
Ibrahim, MS	2
Khalifa, S	1
Megahed, YM	2
Bax, GM	1
Tangheroni, W	1
Cao, A	1
Blehová, B	1
Codaccioni, JL	1
Vague, J	1
Guazzelli, R	1
Farnararo, M	1
Burci, P	1
Melani, F	1
Mouriz, J	1
Riesco, G	1
Usobiaga, P	1
Malamos, B	1
Koutras, DA	1
Sfontouris, J	1
Rigopoulos, G	1
Mason, DK	1
Shanmuganathan, M	1
Britz-McKibbin, P	1
Feinstein, Y	1
Yerushalmi, B	1
Loewenthal, N	1
Alkrinawi, S	1
Birk, OS	1
Parvari, R	1
Hershkovitz, E	1
Ruocco, V	1
Florio, M	1
Sela, BA	1
Trau, H	1
Spira, A	1
Mitchell, SC	1
Dukarskiĭ, FG	1
Antonova, MV	1
Shchebletsov, VL	1
Dudziński, W	1
Carey, JP	1
Turino, GM	1
Mengoli, C	1
Bender, SW	1
Talamo, RC	1

Trial			Phase	Enrollment	Study Type	Start Date	Status
Study on the Compensatory Mechanism of Iodine Nutrition and the Optimal Intake Level of Lactating Women[NCT04492657]				600 participants (Anticipated)	Observational	2020-01-01	Recruiting
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Article	Year
Minireview: The sodium-iodide symporter NIS and pendrin in iodide homeostasis of the thyroid. Endocrinology, 2009, Volume: 150, Issue:3 Topics: Animals; Gene Expression Regulation; Homeostasis; Humans; Iodine; Membrane Transport Proteins; Metab	2009
Hormonogenetic errors in thyroid tumor. Journal of endocrinological investigation, 1978, Volume: 1, Issue:4 Topics: Animals; Cyclic AMP; Humans; Iodine; Metabolism, Inborn Errors; Neoplasms, Experimental; Rats; Recep	1978
The biosynthesis of thyroid hormones. The South African journal of medical sciences, 1976, Volume: 41, Issue:2 Topics: Animals; Cattle; Diiodotyrosine; Humans; Iodide Peroxidase; Iodides; Iodine; Metabolism, Inborn Erro	1976
The diagnostic use of radionuclides in the thyroid disorders of childhood. Seminars in nuclear medicine, 1971, Volume: 1, Issue:3 Topics: Blood Proteins; Child; Diagnosis, Differential; Female; Fetus; Humans; Hypothyroidism; Infant, Newbo	1971
Some recent developments in the physiology of the thyroid gland. Ergebnisse der Physiologie, biologischen Chemie und experimentellen Pharmakologie, 1972, Volume: 65 Topics: Animals; Cyclic AMP; Deafness; Goiter; Goiter, Endemic; Graves Disease; Guinea Pigs; Humans; Iodine;	1972
[Physiological significance of iodotyrosine-deiodinases]. Zeitschrift fur die gesamte innere Medizin und ihre Grenzgebiete, 1972, Mar-01, Volume: 27, Issue:5 Topics: Biopsy; Chemical Phenomena; Chemistry; Chromosomes; Congenital Hypothyroidism; Culture Techniques; D	1972
[Genetic aspects of endocrine diseases]. Verhandlungen der Deutschen Gesellschaft fur Innere Medizin, 1974, Volume: 80 Topics: Adolescent; Adrenal Cortex; Adrenal Cortex Hormones; Adrenal Gland Diseases; Adrenal Hyperplasia, Co	1974
[Inborn enzyme abnormalities--new concept of the etiology of endocrine disorders]. Horumon to rinsho. Clinical endocrinology, 1967, Volume: 15, Issue:10 Topics: Adrenal Glands; Adrenocortical Hyperfunction; Humans; Iodine; Metabolism, Inborn Errors; Steroids; T	1967
Hypothyroidism due to enzyme defects. Postgraduate medical journal, 1968, Volume: 44, Issue:511 Topics: Biological Transport; Cell Membrane Permeability; Humans; Hypothyroidism; Iodine; Metabolism, Inborn	1968
The circulating iodotyrosines. Acta endocrinologica, 1968 Topics: Animals; Chromatography, Paper; Humans; Intestinal Absorption; Iodine; Iodoproteins; Kidney; Liver;	1968
Biochemistry of mental disorders. Report of a WHO Scientific Group. World Health Organization technical report series, 1969, Volume: 427 Topics: Adult; Affective Symptoms; Avitaminosis; Behavior; Brain; Brain Chemistry; Child; Chromosome Aberrat	1969
The fish-odor syndrome. Perspectives in biology and medicine, 1996,Summer, Volume: 39, Issue:4 Topics: Diet; Halitosis; Humans; Metabolism, Inborn Errors; Methylamines; Odorants; Sweat; Syndrome	1996
[Role of olfaction in the diagnosis of diseases (characteristic odors in the course of various pathologic conditions)]. Polski tygodnik lekarski (Warsaw, Poland : 1960), 1977, Oct-24, Volume: 32, Issue:43 Topics: Chromatography, Gas; Diagnosis; Disease; Female; Humans; Infections; Laryngeal Diseases; Male; Metab	1977
Hereditary aspects of COPD. Postgraduate medicine, 1973, Volume: 54, Issue:3 Topics: Adult; Alpha-Globulins; Cystic Fibrosis; Cytoplasm; Female; Heterozygote; Humans; Lung; Lung Disease	1973
Cystic fibrosis. Recent advances in understanding of its pathogenesis, detection of carriers and improved prognosis. Medical times, 1969, Volume: 97, Issue:2 Topics: Adolescent; Calcium; Child; Cystic Fibrosis; Glycoproteins; Humans; Metabolism, Inborn Errors; Progn	1969

Article	Year
[Thyroid hormonosynthesis disorders due to iodotyrosine-dehalogenase deficiency. Value of the D.I.T. test for the detection of heterozygotes]. Archives francaises de pediatrie, 1974, Volume: 31, Issue:1 Topics: Adolescent; Adult; Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Clinical T	1974
Natural history and clinical manifestations of hyponatremia and hyperchlorhidrosis due to carbonic anhydrase XII deficiency. Hormone research in paediatrics, 2014, Volume: 81, Issue:5 Topics: Adolescent; Adult; Carbonic Anhydrases; Child; Child, Preschool; Dehydration; Female; Humans; Hypona	2014

iodine and Metabolism, Inborn Errors

Research Excerpts

Research

Studies (57)

Authors

Clinical Trials (1)

Trial Overview

Reviews

Trials

Other Studies

Article	Year
Clinical characteristics and genetics analysis for the ITD of congenital hypothyroidism. Journal of pediatric endocrinology & metabolism : JPEM, 2022, Jun-27, Volume: 35, Issue:6 Topics: Congenital Hypothyroidism; Humans; Iodides; Iodine; Metabolism, Inborn Errors; Mutation	2022
THE POSSIBLE OCCURRENCE OF TWO INBORN ERRORS OF IODINE METABOLISM IN ONE PATIENT. Acta endocrinologica, 1964, Volume: 47 Topics: Adolescent; Child; Congenital Hypothyroidism; Diiodotyrosine; Electrophoresis; Goiter; Humans; Iodid	1964
Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD. The Journal of clinical endocrinology and metabolism, 2006, Volume: 91, Issue:4 Topics: Age of Onset; Aging; Animals; Chlorocebus aethiops; COS Cells; DNA; Exons; Genetic Vectors; Genotype	2006
[Causes of congenital hypothyroidism. The Thyroid Study Group]. Tijdschrift voor kindergeneeskunde, 1984, Volume: 52, Issue:6 Topics: Congenital Hypothyroidism; Contrast Media; Humans; Hypothyroidism; Infant, Newborn; Iodine; Metaboli	1984
Clinical and molecular analysis of three Mexican families with Pendred's syndrome. European journal of endocrinology, 2001, Volume: 144, Issue:6 Topics: Adolescent; Child; Female; Goiter; Haplotypes; Hearing Loss, Sensorineural; Humans; Iodides; Iodine;	2001
[A medical-legal question of hearing impairment following vaccination (author's transl)]. HNO, 1976, Volume: 24, Issue:4 Topics: Adolescent; Deafness; Diagnosis, Differential; Encephalomyelitis, Acute Disseminated; Female; German	1976
Defective initiation of the metabolic stimulation in phagocytizing granulocytes: a new congenital defect. The Journal of laboratory and clinical medicine, 1976, Volume: 88, Issue:5 Topics: Adult; Antigen-Antibody Complex; Bacterial Infections; Child; DNA; Female; Granulocytes; Hexosephosp	1976
The influence of the plasma inorganic iodine concentration on thyroid function in dehalogenase deficiency. Acta endocrinologica, 1967, Volume: 55, Issue:2 Topics: Adult; Cardiomegaly; Goiter; Humans; Hypothyroidism; Iodine; Iodine Radioisotopes; Male; Metabolism,	1967
Iodine kinetics in organification defect. Folia endocrinologica, 1967, Volume: 20, Issue:2 Topics: Child; Deafness; Goiter; Humans; Iodine; Iodine Radioisotopes; Kinetics; Metabolism, Inborn Errors;	1967
[Familial progressive deafness and subclinical iodine metabolism disorder]. Zeitschrift fur Laryngologie, Rhinologie, Otologie und ihre Grenzgebiete, 1967, Volume: 46, Issue:4 Topics: Adult; Aged; Audiometry; Auditory Threshold; Child; Child, Preschool; Congenital Hypothyroidism; Dea	1967
Biochemical and clinical studies in familial goitre caused by an iodotyrosine deiodinase defect. Australasian annals of medicine, 1968, Volume: 17, Issue:2 Topics: Adolescent; Adult; Child; Diiodotyrosine; Female; Goiter; Humans; Hypothyroidism; Iodine; Iodine Rad	1968
Peroxidase deficiency in familial goiter with iodide organification defect. The New England journal of medicine, 1971, Dec-16, Volume: 285, Issue:25 Topics: Adolescent; Adult; Chromatography, DEAE-Cellulose; Chromatography, Gel; Electrophoresis; Electrophor	1971
[Letter: Defective utilization of iodine by the thyroid gland]. Medizinische Klinik, 1974, Volume: 69, Issue:38 Topics: Child; Goiter; Humans; Iodine; Metabolism, Inborn Errors; Thyroid Diseases	1974
[Proceedings: Citrulinemia associated with goiter due to a defect in iodine condensation mechanism]. Nihon Naibunpi Gakkai zasshi, 1974, Feb-20, Volume: 50, Issue:2 Topics: Adult; Citrulline; Goiter; Humans; Iodine; Ligases; Male; Metabolism, Inborn Errors	1974
Biochemical defects in thyroid hormone synthesis and their relation to endemic goiter. Acta endocrinologica. Supplementum, 1973, Volume: 179 Topics: Deficiency Diseases; Depression, Chemical; Goiter, Endemic; Humans; Iodine; Metabolism, Inborn Error	1973
[Pathophysiologic findings in endemic goiter and normal thyroid glands in an endemic goiter district]. Acta endocrinologica. Supplementum, 1973, Volume: 179 Topics: Austria; Autoradiography; Carbohydrate Metabolism; Carbon Radioisotopes; Chromatography; Electrophor	1973
[Study of a family with goiter caused by an iodine organification defect]. Arquivo de patologia, 1972, Volume: 44, Issue:2 Topics: Adolescent; Adult; Aged; Female; Goiter; Humans; Iodine; Male; Metabolism, Inborn Errors; Middle Age	1972
[Familial goiter accompanying amblyacousia and idiocy]. Horumon to rinsho. Clinical endocrinology, 1973, Volume: 21, Issue:2 Topics: Adolescent; Adult; Child; Deafness; Female; Goiter; Humans; Intellectual Disability; Iodine; Male; M	1973
[Pathogenesis of defective bone formation]. Pediatriia, 1973, Volume: 52, Issue:10 Topics: Adolescent; Blood Proteins; Child; Child, Preschool; Female; Humans; Iodine; Male; Metabolism, Inbor	1973
Quantitative leukocyte iodination. The New England journal of medicine, 1971, Apr-08, Volume: 284, Issue:14 Topics: Blood Bactericidal Activity; Chronic Disease; Enterococcus faecalis; Escherichia coli; Female; Granu	1971
Defective deiodination of 131-I-labeled L-diiodotyrosine in a family with cases of euthyroid goiter and hyperthyroidism. Endocrinologia japonica, 1971, Volume: 18, Issue:2 Topics: Child; Diiodotyrosine; Goiter; Humans; Hyperthyroidism; Iodine; Iodine Isotopes; Male; Metabolism, I	1971
Studies of a sibship with apparent hereditary resistance to the intracellular action of thyroid hormone. Metabolism: clinical and experimental, 1972, Volume: 21, Issue:8 Topics: Adolescent; Bone Diseases, Developmental; Child; Deafness; Erythrocytes; Female; Fibroblasts; Goiter	1972
[Rare form of hypothyroidism in siblings (iodine accumulation disorder)]. Monatsschrift fur Kinderheilkunde, 1969, Volume: 117, Issue:4 Topics: Child; Female; Humans; Hypothyroidism; Iodine; Male; Metabolism, Inborn Errors; Thyroid Hormones	1969
Iodine metabolism in endemic goitre in countries of the Middle East. II. Dyshormonogenetic goitre: a study of 46 cases. Radiobiologia, radiotherapia, 1967, Volume: 8, Issue:4 Topics: Adolescent; Adult; Child; Child, Preschool; Congenital Hypothyroidism; Egypt; Female; Goiter; Humans	1967
Disturbed organic binding in the thyroid: one or two defects? Acta endocrinologica, 1967, Volume: 56, Issue:4 Topics: Adolescent; Animals; Child; Child, Preschool; Congenital Hypothyroidism; Deafness; Goiter; Humans; H	1967
[Congenital hypothyroidism with goiter caused by altered structure of thyroid iodoproteins]. Folia endocrinologica, 1967, Volume: 20, Issue:3 Topics: Adolescent; Congenital Hypothyroidism; Dwarfism; Goiter; Humans; Iodine; Iodoproteins; Male; Metabol	1967
[Familial cretinism with goiter--an inborn metabolic error]. Ceskoslovenska pediatrie, 1968, Volume: 23, Issue:2 Topics: Congenital Hypothyroidism; Consanguinity; Female; Goiter; Humans; Hypothyroidism; Iodine; Iodine Rad	1968
[Congenital absence of idothyronine deiodase]. Ceskoslovenska pediatrie, 1968, Volume: 23, Issue:9 Topics: Child; Enzymes; Goiter; Humans; Hypothyroidism; Iodine; Iodine Radioisotopes; Male; Metabolism, Inbo	1968
[Functional and biochemical studies of subjects with goiter in a sub-endemic area]. Rivista critica di clinica medica, 1968, Volume: 68 Topics: Adolescent; Adult; Aged; Basal Metabolism; Female; Goiter; Humans; Iodine; Male; Metabolism, Inborn	1968
Thyroid proteins in a goitrous cretin with iodide organification defect. The Journal of clinical endocrinology and metabolism, 1969, Volume: 29, Issue:7 Topics: Adolescent; Chromatography, Gel; Congenital Hypothyroidism; Female; Goiter; Humans; Iodides; Iodine;	1969
Defective deiodinase activity and abnormal thyroidal iodoproteins. The Journal of clinical endocrinology and metabolism, 1969, Volume: 29, Issue:9 Topics: Autoradiography; Centrifugation, Density Gradient; Diiodotyrosine; Goiter; Humans; Hyperplasia; Hypo	1969
Inborn errors of iodine metabolism in Greece. Nuclear-Medizin, 1964, Apr-01, Volume: 4, Issue:1 Topics: Adolescent; Adult; Child; Congenital Hypothyroidism; Deafness; Female; Goiter; Greece; Humans; Hypot	1964
Iodine excretion in urine, saliva, gastric juice and sweat in dehalogenase deficiency. The Journal of endocrinology, 1966, Volume: 36, Issue:4 Topics: Adult; Chromatography, Ion Exchange; Female; Gastric Juice; Humans; Iodine; Metabolism, Inborn Error	1966
Abnormal metabolism of thiourea-S 35 in Pendred's syndrome. Endokrinologie, 1966, Volume: 50, Issue:5 Topics: Adolescent; Child; Deafness; Female; Goiter; Humans; Iodine; Iodine Radioisotopes; Male; Metabolism,	1966
New Advances for Newborn Screening of Inborn Errors of Metabolism by Capillary Electrophoresis-Mass Spectrometry (CE-MS). Methods in molecular biology (Clifton, N.J.), 2019, Volume: 1972 Topics: Biomarkers; Dried Blood Spot Testing; Electrophoresis, Capillary; High-Throughput Screening Assays;	2019
Fish-odor syndrome: an olfactory diagnosis. International journal of dermatology, 1995, Volume: 34, Issue:2 Topics: Diet; Humans; Metabolism, Inborn Errors; Methylamines; Odorants; Sweat; Syndrome	1995
[Trimethylaminuria: fish-odor syndrome]. Harefuah, 1993, Feb-01, Volume: 124, Issue:3 Topics: Adult; Female; Humans; Metabolism, Inborn Errors; Methylamines; Odorants; Respiration; Sweat	1993
[Pathogenesis and early diagnosis of mucoviscidosis in children (literature survey)]. Voprosy okhrany materinstva i detstva, 1976, Volume: 21, Issue:8 Topics: Adrenal Cortex Hormones; Albumins; Bronchi; Calcium; Calcium Metabolism Disorders; Child; Child, Pre	1976
[Current views on the etiopathogenesis of mucoviscidosis and on the characterization of the defect]. Recenti progressi in medicina, 1971, Volume: 50, Issue:3 Topics: Calcium; Cystic Fibrosis; Electrolytes; Glucosyltransferases; Glycoproteins; Glycosaminoglycans; Hum	1971
[Pathogenesis of mucoviscidosis]. Zeitschrift fur Allgemeinmedizin, 1972, Aug-31, Volume: 48, Issue:24 Topics: Cystic Fibrosis; Heart; Humans; Liver; Lung; Metabolism, Inborn Errors; Pancreas; Sweat; Water-Elect	1972