Acute intermittent porphyria and spinal muscular atrophy: two rare diseases seen in one patient

Abstract

Porphyrias are a cluster of inherited metabolic diseases. Acute intermittent porphyria (AIP) is inherited autosomal dominantly that presents with multi-systemic symptoms and acute repetitive attacks in any age of lifespan. Spinal muscular atrophy (SMA) is a motor neuron disease that is autosomal recessively inherited and seen with a relatively higher incidence in Turkey. In this case report, we discuss a 27-year-old male with gait problems and fatigue. Here, we report a familial heterozygous mutation in hydroxymethylbilane synthase (HMBS) gene together with homozygous deletion in the survival motor neuron 1 (SMN1) gene in a Turkish patient.