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Archivos de Pediatría del Uruguay

Print version ISSN 0004-0584On-line version ISSN 1688-1249


GONZALEZ, Verónica et al. A clinical case of hepato-erythropoietic porphyria associated with type 1 diabetes mellitus. Arch. Pediatr. Urug. [online]. 2021, vol.92, n.2, e307.  Epub Dec 01, 2021. ISSN 0004-0584.

Porphyria is a complex and heterogeneous group of heme synthesis disorder. Hepato-erythropoietic porphyria is a very rare subtype that onsets in childhood, and shows predominant skin involvement. We describe the clinical case of a 5-year-old patient who showed skin lesions and hypertrichosis and whose diagnosis was confirmed due to increased uroporphyrins in urine and UROD gene sequencing

Keywords : Hepatic porphyrias; Erythropoietic porphyria; Heme; Child.

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