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An unusual case of variegate porphyria with possible homozygous inheritance
Author(s) -
Coakley J.,
Blake D.,
Hawkins R.,
Nordmann Y.,
Crinis N.,
Sloan L.,
McManus J.,
Connelly J.
Publication year - 1990
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1990.tb01320.x
Subject(s) - protoporphyrinogen oxidase , medicine , adrenarche , porphyria , endocrinology , epilepsy , pediatrics , gene , genetics , psychiatry , biology , hormone
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 fibro‐blasts. 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 5α reductase activity were probably other contributing factors to the severity of the condition in this patient.