title: An unusual case of variegate porphyria with possible homozygous inheritance.
abstract: We report an unusual case of variegate porphyria in a young girl with epilepsy, mental retardation and premature adrenarche. Symptoms of porphyria commenced about the age of 12 years and death occurred about 18 months later. The patient had very low protoporphyrinogen oxidase activity in her cultured fibroblasts. Both parents had half the normal activity of this enzyme in lymphocytes and are heterozygous for the abnormal gene for variegate porphyria. Therefore, it is possible that the patient was a homozygous variant. Anticonvulsant therapy and low hepatic 5 alpha reductase activity were probably other contributing factors to the severity of the condition in this patient.
authors.affiliation: Department of Clinical Biochemistry, Royal Children's Hospital, Vic.
authors.forename: J
authors.initials: J
authors.lastname: Coakley
authors.forename: R
authors.initials: R
authors.lastname: Hawkins
authors.forename: N
authors.initials: N
authors.lastname: Crinis
authors.forename: J
authors.initials: J
authors.lastname: McManus
authors.forename: D
authors.initials: D
authors.lastname: Blake
authors.forename: Y
authors.initials: Y
authors.lastname: Nordmann
authors.forename: L
authors.initials: L
authors.lastname: Sloan
authors.forename: J
authors.initials: J
authors.lastname: Connelly
mesh_terms: D000818:Animals; D002648:Child; D003304:Coproporphyrinogen Oxidase / Q000097:blood; D006224:Cricetinae; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005420:Flavoproteins; D006720:Homozygote; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000097:blood; D024101:Mitochondrial Proteins; D010088:Oxidoreductases / Q000097:blood; D044925:Oxidoreductases Acting on CH-CH Group Donors; D011164:Porphyrias / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D011166:Porphyrins / Q000097:blood; D050768:Protoporphyrinogen Oxidase
chemical_list: D005420:Flavoproteins; D024101:Mitochondrial Proteins; D011166:Porphyrins; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D003304:Coproporphyrinogen Oxidase; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase; D011163:Hydroxymethylbilane Synthase