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.
推出的年份: 1993
树号: C06.552.830.150, C16.320.850.742.150, C17.800.827.742.150, C18.452.811.400.150
MeSH 单一 ID: D017118
进入的组:
Acute Intermittent Porphyria
Acute Intermittent Porphyrias
Intermittent Porphyria, Acute
Intermittent Porphyrias, Acute
Porphyrias, Acute Intermittent
Acute Porphyria
Acute Porphyrias
Porphyria, Acute
Porphyrias, Acute
Hydroxymethylbilane Synthase Deficiency
Deficiencies, Hydroxymethylbilane Synthase
Deficiency, Hydroxymethylbilane Synthase
Hydroxymethylbilane Synthase Deficiencies
Synthase Deficiencies, Hydroxymethylbilane
Synthase Deficiency, Hydroxymethylbilane
Uroporphyrinogen Synthase Deficiency
Deficiencies, Uroporphyrinogen Synthase
Deficiency, Uroporphyrinogen Synthase
Synthase Deficiencies, Uroporphyrinogen
Synthase Deficiency, Uroporphyrinogen
Uroporphyrinogen Synthase Deficiencies
Porphyria, Swedish Type
Porphyrias, Swedish Type
Swedish Type Porphyria
Swedish Type Porphyrias
Type Porphyria, Swedish
Type Porphyrias, Swedish
UPS Deficiency
Deficiencies, UPS
Deficiency, UPS
UPS Deficiencies
PBGD Deficiency
Deficiencies, PBGD
Deficiency, PBGD
PBGD Deficiencies
Porphobilinogen Deaminase Deficiency
Deaminase Deficiencies, Porphobilinogen
Deaminase Deficiency, Porphobilinogen
Deficiencies, Porphobilinogen Deaminase
Deficiency, Porphobilinogen Deaminase
Porphobilinogen Deaminase Deficiencies
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