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Erythrocyte uroporphyrinogen-I-synthetase activity in acute intermittent porphyria. 1979

J H Wilson, and J W van den Berg, and D Brouwers, and K Coppens, and J van Zellem

UI MeSH Term Description Entries
D008297 Male Males
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011163 Hydroxymethylbilane Synthase An enzyme that catalyzes the tetrapolymerization of the monopyrrole PORPHOBILINOGEN into the hydroxymethylbilane preuroporphyrinogen (UROPORPHYRINOGENS) in several discrete steps. It is the third enzyme in the 8-enzyme biosynthetic pathway of HEME. In humans, deficiency in this enzyme encoded by HMBS (or PBGD) gene results in a form of neurological porphyria (PORPHYRIA, ACUTE INTERMITTENT). This enzyme was formerly listed as EC 4.3.1.8 Porphobilinogen Ammonia-Lyase,Porphobilinogen Deaminase,Uroporphyrinogen I Synthase,Hydroxymethylbilane Synthetase,Pre-uroporphyrinogen Synthetase,Preuroporphyrinogen Synthetase,Ammonia-Lyase, Porphobilinogen,Deaminase, Porphobilinogen,Porphobilinogen Ammonia Lyase,Pre uroporphyrinogen Synthetase,Synthase, Hydroxymethylbilane,Synthase, Uroporphyrinogen I,Synthetase, Hydroxymethylbilane,Synthetase, Pre-uroporphyrinogen,Synthetase, Preuroporphyrinogen
D011164 Porphyrias A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. Porphyria,Porphyrin Disorder,Disorder, Porphyrin,Disorders, Porphyrin,Porphyrin Disorders
D004912 Erythrocytes Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN. Blood Cells, Red,Blood Corpuscles, Red,Red Blood Cells,Red Blood Corpuscles,Blood Cell, Red,Blood Corpuscle, Red,Erythrocyte,Red Blood Cell,Red Blood Corpuscle
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000642 Ammonia-Lyases Enzymes that catalyze the formation of a carbon-carbon double bond by the elimination of AMMONIA. EC 4.3.1. Ammonia Lyase,Ammonia-Lyase,Ammonia Lyases,Lyase, Ammonia
D017118 Porphyria, Acute Intermittent An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine. Hydroxymethylbilane Synthase Deficiency,Uroporphyrinogen Synthase Deficiency,Acute Porphyria,PBGD Deficiency,Porphobilinogen Deaminase Deficiency,Porphyria, Swedish Type,UPS Deficiency,Acute Intermittent Porphyria,Acute Intermittent Porphyrias,Acute Porphyrias,Deaminase Deficiencies, Porphobilinogen,Deaminase Deficiency, Porphobilinogen,Deficiencies, Hydroxymethylbilane Synthase,Deficiencies, PBGD,Deficiencies, Porphobilinogen Deaminase,Deficiencies, UPS,Deficiencies, Uroporphyrinogen Synthase,Deficiency, Hydroxymethylbilane Synthase,Deficiency, PBGD,Deficiency, Porphobilinogen Deaminase,Deficiency, UPS,Deficiency, Uroporphyrinogen Synthase,Hydroxymethylbilane Synthase Deficiencies,Intermittent Porphyria, Acute,Intermittent Porphyrias, Acute,PBGD Deficiencies,Porphobilinogen Deaminase Deficiencies,Porphyria, Acute,Porphyrias, Acute,Porphyrias, Acute Intermittent,Porphyrias, Swedish Type,Swedish Type Porphyria,Swedish Type Porphyrias,Synthase Deficiencies, Hydroxymethylbilane,Synthase Deficiencies, Uroporphyrinogen,Synthase Deficiency, Hydroxymethylbilane,Synthase Deficiency, Uroporphyrinogen,Type Porphyria, Swedish,Type Porphyrias, Swedish,UPS Deficiencies,Uroporphyrinogen Synthase Deficiencies

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J H Wilson, and J W van den Berg, and D Brouwers, and K Coppens, and J van Zellem
Decreased red cell uroporphyrinogen I synthetase activity in intermittent acute porphyria.
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