Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Figures & data

Table 1 Misdiagnosis of acute intermittent porphyria

Authors	Misdiagnosis	Summary of the case
Ohtani et al^Citation11	Hepatitis	44-year-old female with abdominal pain and found to have high transaminases <1,000 mU/mL
Kumar^Citation5	Psychosis	15-year-old female diagnosed with schizophrenia 1 year ago presented to the psychiatric hospital with bizarre behavior of 2 days’ duration
Cuquemelle et al^Citation6	Guillain–Barré syndrome	26-year-old female hospitalized in intensive care unit for acute respiratory failure associated with an acute polyradiculoneuropathy

OhtaniYYamaokaMSawadaMMiyazakiYMiyazakiROkayasuIAcute intermittent porphyria associated with transient elevation of transaminases during an acute attackIntern Med2000391454910674848

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KumarBAcute intermittent porphyria presenting solely with psychosis: a case report and discussionPsychosomatics201253549449822902088

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CuquemelleEEhrmannSRazaziKDeybachJCBrun-BuissonCThilleAWAn atypical case of Guillain-Barré syndrome: acute intermittent porphyriaIntensive Care Med201238591391422273750

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