| Autor: |
Sude Çavdaroğlu, İlayda Altun, Elif Bilge Atasay, Gulshan Yunisova, Piraye Oflazer, Gülbüz Sezgin |
| Rok vydání: |
2023 |
| Zdroj: |
Journal of Rare Diseases. 2 |
| ISSN: |
2731-085X |
| DOI: |
10.1007/s44162-023-00007-w |
| Popis: |
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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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