A family with acute intermittent porphyria.
Porphyrias are inherited defects in heme metabolism that result in excessive secretion of porphyrins and porphyrin precursors. Porphyrias can be classified into acute, (neuropsychiatric), cutaneous and mixed forms. There are seven main types of porphyrias; acute intermittent porphyria and plumboporphyria are predominantly neuropsychiatric; congenital erythropoietic porphyria, porphyria cutanea tarda and erythropoietic protoporphyria have predominantly cutaneous manifestations and hereditary coproporphyria and variegate porphyria are classified as mixed as they both have neuropsychiatric and cutaneous features. They cause life-threatening attacks of neurovisceral symptoms that mimic many other acute medical and psychiatric conditions. Lack of clinical recognition often delays effective treatment, and inappropriate diagnostic tests may lead to misdiagnosis and inappropriate treatment. Although the specific enzyme and gene defect have been identified, diagnosis and treatment of these disorders present formidable challenges because their signs and symptoms mimic other common conditions. We present a case report of a 13 years old girl who suffers from acute intermittent porphyria and the family tree showing all members who suffer from it.
Billoo
Abdul Gaffar
AG
Department of Paediatrics, The Aga Khan University Hospital, Karachi, Pakistan. gaffar.billoo@aku.edu
Lone
Saira Waqar
SW
D000293:Adolescent; D000622:Aminolevulinic Acid / Q000652:urine; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D010375:Pedigree; D011162:Porphobilinogen / Q000652:urine; D017118:Porphyria, Acute Intermittent / Q000175:diagnosis / Q000235:genetics* / Q000652:urine; D016482:Urinalysis
D011162:Porphobilinogen; D000622:Aminolevulinic Acid