DiseasesChemicals and DrugsInformation Science
AlkaptonuriaHomogentisate 1,2-DioxygenaseOchronosisHomogentisic Acid4-Hydroxyphenylpyruvate DioxygenaseFacial DermatosesCyclohexanonesDioxygenasesHyperpigmentationNitrobenzoatesScleral DiseasesJoint DiseasesOxygenasesEncyclopedias as TopicPhenylalanine
OchronosisEnzymePersons suffering from alPhenylketonuriaHomogentisic acidHomogentisateSymptomsTyrosineInborn errors ofDisorderDiagnosisGeneticsSphingomyelinase DeficiencyMetabolicAutosomal recessive patternSuccinicGeneCalcificationUrinePatientsIncidencePhenylalanine1902GarrodArthritisEnzymesRareBlackSyndromePeopleAccumulationTreatment
Ochronosis5
  • Endogenous ochronosis (alkaptonuria). (medlineplus.gov)
  • Biochemical, pathological and clinical aspects of alcaptonuria, ochronosis and ochronotic arthropathy: review of the world literature (1584-1962). (medscape.com)
  • Alkaptonuria ( black urine disease , alcaptonuria or ochronosis ) is a rare inherited genetic disorder of tyrosine metabolism. (wikidoc.org)
  • Untangling the Spirals of Metabolic Disease: Primary Diagnoses and Secondary Effects: Implications for Treatment David A. H. Whiteman MD 1909 Archibald Garrod In his paper, Inborn Errors of Metabolism, the disease Alkaptonuria (Ochronosis: Homogentisic Acid Oxidase Deficiency) is described as being caused by a gene. (abcdocz.com)
  • and nitisinone, for the ochronosis of alkaptonuria. (nih.gov)
Enzyme10
  • A deficiency of the hepatic enzyme homogentisate 1,2-dioxygenase (HGO) forces the accumulation of homogentisic acid, which is rapidly cleared in the kidney and excreted. (medscape.com)
  • In people with alkaptonuria, both copies of the gene contain abnormalities that mean that the body cannot produce an adequately functioning enzyme. (wikipedia.org)
  • In alkaptonuria, the HGD enzyme cannot metabolize the homogentisic acid (generated from tyrosine) into 4-maleylacetoacetate, and homogentisic acid levels in the blood are 100-fold higher than would normally be expected, despite the fact that a substantial amount is eliminated into the urine by the kidneys. (wikipedia.org)
  • Alkaptonuria (AKU) is a rare autosomal recessive condition with a prevalence of 1 in 250 000-1 000 000 1 caused by the deficiency of homogentisate 1,2 dioxygenase, the enzyme responsible for breaking down homogentisic acid (HGA). (bmj.com)
  • condition caused by deficiency of fumarylacetoacetate hydroxylase, an enzyme important for tyrosine metabolism. (msdmanuals.com)
  • Alkaptonuria is a rare inherited disorder in which a deficiency of an enzyme called homogentisate 1,2 dioxygenase - HGD, results in the accumulation of homogentisic acid in connective tissues . (osmosis.org)
  • SSADH deficiency is caused by an enzyme deficiency in GABA degradation. (wikidoc.org)
  • This disorder is characterized by a deficiency in the enzyme phenylalanine hydroxylase (PAH). (biologydiscussion.com)
  • This enzyme becomes non-functional in the persons suffering from alkaptonuria. (biologydiscussion.com)
  • Hereditary coproporphyria (HCP) is a form of hepatic porphyria associated with a deficiency of the enzyme coproporphyrinogen III oxidase. (bionity.com)
Persons suffering from al1
  • In adulthood, but usually not before age forty, persons suffering from alkaptonuria develop progressive arthritis (especially of the spine), due to the long-term buildup of homogentisate in bones and cartilage. (wikidoc.org)
Phenylketonuria2
  • These include the fact that newborn screening for alkaptonuria is much less widely practiced than that for phenylketonuria . (medscape.com)
  • ADHD symptoms have been described in phenylketonuria, tyrosinemias, alkaptonuria, succinic semialdehyde dehydrogenase deficiency, X-linked ichthyosis, maple syrup urine disease, and several mitochondrial disorders, but are probably present in many other NMDs and may pose diagnostic and therapeutic challenges. (archive.org)
Homogentisic acid6
Homogentisate2
  • Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database. (medscape.com)
  • As we join this kind of parameter by incorporating other scientific functions, you'll be able to calculate postoperative hypocalcemia more accurately and also bring in supplementing as early as possibleTrack record: Alkaptonuria, the consequence of deficiency of homogentisate 1,2-dioxygenase, leads to the accumulation of homogentisic chemical p (Two,5-dihydroxyphenylacetic chemical p, HGA) from the pee. (micrornalibrary.com)
Symptoms3
  • Although parents of Alcaptonuria patients are carriers of the mutated gene, they do not usually develop the symptoms themselves. (hxbenefit.com)
  • The symptoms of SSADH deficiency fall into three primary categories: neurological, psychiatric, and ocular . (wikidoc.org)
  • Symptoms of alpha-1 antitrypsin deficiency include shortness of breath, recurring respiratory infections, or obstructive asthma that does not respond to treatment. (the-medical-dictionary.com)
Tyrosine3
  • disorder is caused by tyrosine transaminase deficiency. (msdmanuals.com)
  • Background Alkaptonuria is a rare, debilitating autosomal recessive disorder affecting tyrosine metabolism. (qxmd.com)
  • The National Alkaptonuria Centre in Liverpool has been using 2 mg nitisinone (NTBC) off-license for all patients in the United Kingdom with alkaptonuria and monitoring the tyrosine metabolite profiles. (qxmd.com)
Inborn errors of1
Disorder4
  • Alkaptonuria is a genetic disorder in which the urine of the patient turns black once exposed to air. (hxbenefit.com)
  • Succinic semialdehyde dehydrogenase deficiency (SSADHD), also known as 4-hydoxybutyric aciduria or gamma-hydoxybutyric aciduria , is a rare autosomal recessive disorder [1] of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid , or GABA . (wikidoc.org)
  • Alpha 1-antitrypsin deficiency ( A1AD or Alpha-1 ) is a genetic disorder caused by reduced levels of alpha 1-antitrypsin in the blood. (the-medical-dictionary.com)
  • Severe [[alpha].sub.1]-antitrypsin (AAT) deficiency is a co-dominant autosomal hereditary disorder that manifests clinically as the appearance of pulmonary emphysema at young ages, particularly in smokers. (the-medical-dictionary.com)
Diagnosis2
Genetics1
Sphingomyelinase Deficiency1
  • The phenotype of acid sphingomyelinase deficiency (ASMD) occurs along a continuum. (beds.ac.uk)
Metabolic2
  • The condition was first described by English physician Sir Archibald Edward Garrod, who stated that it results from intermediate buildup due to metabolic deficiencies. (hxbenefit.com)
  • Alkaptonuria was one of the four diseases described by Sir Archibald Edward Garrod , as being the result of the accumulation of intermediates due to metabolic deficiencies. (wikidoc.org)
Autosomal recessive pattern1
  • Succinic semialdehyde dehydrogenase deficiency has an autosomal recessive pattern of inheritance. (wikidoc.org)
Succinic1
  • However, because of the deficiency, the final intermediate of the GABA degradation pathway, succinic semialdehyde, accumulates and cannot be oxidized to succinic acid and is therefore reduced to gamma-hydroxybutyric acid (GHB) by gamma-hydroxybutyric dehydrogenase. (wikidoc.org)
Gene3
  • Mutations in the HGD gene cause alkaptonuria. (medlineplus.gov)
  • It is believed that the genetic basis for SSADH deficiency resides in the SSADH human ALDH5A1 gene which maps to chromosome 6p22. (wikidoc.org)
  • 21. Sharma A, Naidu GSRSNK, Chattopadhyay A, Acharya N, Jha S , Jain S. Novel CECR1 gene mutations causing deficiency of adenosine deaminase 2, mimicking antiphospholipid syndrome. (org.np)
Calcification1
  • The program has spearheaded the discovery of a new disease of vascular calcification called arterial calcification due to deficiency of CD73 (ACDC) and the associated calcification-inhibiting pathway of adenosine signaling in vascular endothelial cells. (nih.gov)
Urine4
  • Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. (medlineplus.gov)
  • Alkaptonuria, also called black urine disease, alcaptonuria, and black bone disease, is one of 4 disorders originally defined as an inborn error of metabolism by Archibald Garrod in his Croonian Lectures of 1902. (medscape.com)
  • citation needed] Patients with alkaptonuria are asymptomatic as children or young adults, but their urine may turn brown or even inky black if collected and left exposed to open air. (wikipedia.org)
  • People with alkaptonuria can also present with vision and hearing problems, and have dark urine. (osmosis.org)
Patients3
  • The success of dietary protein restriction in alkaptonuria patients is age-dependent. (medscape.com)
  • Methods Patients with confirmed alkaptonuria are commenced on 2 mg dose (alternative days) of NTBC for three months with daily dose thereafter. (qxmd.com)
  • Nearly half of the patients with SSADH deficiency have seizures. (wikidoc.org)
Incidence2
  • Alkaptonuria is more common in certain areas of Slovakia (where it has an incidence of about 1 in 19,000 people) and in the Dominican Republic. (medlineplus.gov)
  • The incidence of alkaptonuria: a study in chemical individuality. (medscape.com)
Phenylalanine1
  • Carefully monitor diet with periodic measurement of plasma amino acid levels to avoid phenylalanine deficiency. (medscape.com)
19021
Garrod1
  • As Garrod suggested, alkaptonuria is an autosomal recessive genetic trait, although an autosomal dominant transmission pattern in 3 generations in a nonconsanguineous family has been reported. (medscape.com)
Arthritis1
  • People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. (medlineplus.gov)
Enzymes1
  • deficiencies of enzymes involved in its metabolism lead to a variety of syndromes. (msdmanuals.com)
Rare1
Black1
  • MCAD Deficiency A Child with Multiple Problems The Pregnancy Complicated by abdominal pain, severe nausea and vomiting, "black out spells" Emergency C-section because of maternal hemorrhage (unknown cause) A Child with Multiple Problems The Child Multiple hospital admissions for vomiting and dehydration in first year of life Nissen fundoplication at 18 months of age. (abcdocz.com)
Syndrome1
  • 1. AIDS: Acquired immune deficiency syndrome Acquired immunodeficiency syndrome 2. (cdc.gov)
People1
  • Irregularities in the heart rhythm and heart failure affect a significant proportion of people with alkaptonuria (40% and 10%, respectively). (wikipedia.org)
Accumulation1
  • Deficiency of galactocerebrosidase results in the accumulation of galactosylceramide within the lysosomes of Schwann cells and oligodendrocytes which eventually results in apoptosis with secondary abnormal activation of microglia and macrophages with subsequent demyelination and gliosis 2,9,10 . (radiopaedia.org)
Treatment1