Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach.

ABSTRACT: Congenital erythropoietic porphyria (CEP) is a rare hereditary autosomal recessive disease which has never been reported in Zebu cattle. A 3-day-old Gir calf showed teeth discoloration, fever, dehydration, and dyspnea. The main gross findings were pink-colored teeth, red-brown periosteum and bone marrow, and a fluorescent bright pink coloration of the bone marrow and articular surfaces under ultraviolet light. Aggregates of periodic acid-Schiff (PAS)-stained porphyrin pigments were evident in the lungs, kidneys, and the liver. An intron 8 single-nucleotide polymorphism (SNP) in both the Gir calf and control animals, along with the absence of the uroporphyrin III synthetase (UROS) gene mutation, was observed. Most SNPs were located in the intron regions of the UROS gene withou

SUBMITTER: Queiroz CRR 

PROVIDER: S-EPMC7994774 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature