Newborn diagnosed with rare case of ALAD porphyria: Report

A newborn boy with low muscle tone, and breathing and feeding problems during his first days of life was diagnosed with delta-aminolevulinic acid dehydratase (ALAD) deficiency porphyria after undergoing whole genome sequencing, according to a recent report. This was the third reported case of infantile-onset ALAD deficiency porphyria, an…

Severe Case of Rare Porphyria, CEP, Diagnosed in Newborn

A rare and severe form of porphyria — congenital erythropoietic porphyria (CEP) — was diagnosed in an infant girl immediately after birth. The case report, “Perinatal onset of severe congenital erythropoietic porphyria,” was published in the journal Archives of Disease in Childhood: Fetal & Neonatal.