Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

Abstract excerpt

Human acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is an autosomal dominant inborn error of heme biosynthesis due to the half-normal activity of hydroxymethylbilane synthase (HMB-synthase). Here, we describe the first naturally occurring animal model of AIP in four unrelated cat lines who presented phenotypically as congenital erythropoietic porphyria (CEP). Affected cats had...

Topics

• Animals
• Bone and Bones
• Cat Diseases
• Cats
• Coproporphyrins
• Disease Models, Animal
• Female
• Humans
• Hydroxymethylbilane Synthase
• Male
• Models, Molecular
• Molecular Sequence Data
• Mutation
• Porphyria, Acute Intermittent