Volume : V, Issue : VI, June - 2015

Acute Intermittent Porphyria: A Case Report

Dr. Uddhav. S. Khaire, Dr. Harshal Joshi, Dr. P. W. More, Dr. Kusum Sikariya

Abstract :

 Acute intermittent porphyria(AIP) is an autosomal dominant condition resulting from the half normal level of hydroxymethylbilane (HMB) synthase activity required for conversion of porphobilinogen (PBG) to HMB in heme biosynthetic pathway. We report a case of 14 year old boy presented with generalised tonic clonic convulsions, refractory to phenytoin and weakness in both upper and lower limbs with recurrent dull aching abdominal pain. Patient’s urine found to be dark coloured on exposure to sunlight and increased urinary PBG levels and nerve conduction study(NCV) showing mononeuritis multiplex. Non–contrast CT ain was within normal limits. Patient responded to tablet clonazepam and intravenous and oral glucose supplements.

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

Dr.Uddhav.S.Khaire, Dr.Harshal Joshi, Dr.P.W.More, Dr.Kusum Sikariya Acute Intermittent Porphyria: A Case Report Indian Journal of Applied Research, Vol.5, Issue : 6 June 2015

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