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porfýria intermitentná akútna
Record number d017118 Date 06.06.2025 Type M - MESH Topical term porfýria intermitentná akútna Other term English (Pseudonym) Hydroxymethylbilane Synthase Deficiency
English (Pseudonym) Uroporphyrinogen Synthase Deficiency
Slovak (Pseudonym) porfýria prechodná akútna
Slovak (Pseudonym) porphyria acuta intermittens
Slovak (Pseudonym) deficit hydroxymetylbilansyntázy
Slovak (Pseudonym) deficit hydroxymetylbilan syntázy
Slovak (Pseudonym) nedostatok hydroxymetylbilansyntázy
Slovak (Pseudonym) deficit uroporfyrinogén syntázy
Slovak (Pseudonym) deficit uroporfyrinogénsyntázy
See also (Skutočné meno) hydroxymetylbilánsyntáza
UDC C06.552.830.150C16.320.850.742.150C17.800.827.742.150C18.452.811.400.150 Note 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. 
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Number of the records: 1