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.

Descriptor ID	D017118
MeSH Number(s)	C06.552.830.150 C16.320.850.742.150 C17.800.827.742.150 C18.452.811.400.150
Concept/Terms	Porphyria, Acute Intermittent Porphyria, Acute Intermittent 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 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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