Porphyria (definition)

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Porphyria, Acute Intermittent

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Definition: 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.

See Also Hydroxymethylbilane Synthase

Other names Uroporphyrinogen Synthase Deficiency; Hydroxymethylbilane Synthase Deficiency; Uroporphyrinogen Synthase Deficiencies; Synthase Deficiency, Uroporphyrinogen; Synthase Deficiency, Hydroxymethylbilane; Synthase Deficiencies, Uroporphyrinogen; Synthase Deficiencies, Hydroxymethylbilane; Porphyrias, Acute Intermittent; Porphyrias, Acute; Porphyria, Acute; Intermittent Porphyrias, Acute; Intermittent Porphyria, Acute; Hydroxymethylbilane Synthase Deficiencies; Deficiency, Uroporphyrinogen Synthase; Deficiency, Hydroxymethylbilane Synthase; Deficiencies, Uroporphyrinogen Synthase; Deficiencies, Hydroxymethylbilane Synthase; Acute Porphyrias; Acute Intermittent Porphyrias; Acute Intermittent Porphyria

Substance	CAS Registry & name	Categories	Source
Porphobilinogen deaminase deficiency	0	*Porphyria, Acute Intermittent.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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