Article
First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
Journal of inherited metabolic disease - 1 Sept 2015
Wamelink Mirjam M C, Ramos Ruben J J F, van den Elzen Annette P M, Ruijter George J G, Bonte Ramon, Diogo Luisa, Garcia Paula, Neves Nelson, Nota Benjamin, Haschemi Arvand, Tavares de Almeida Isabel, Salomons Gajja S
Abstract excerpt
We present the first two reported unrelated patients with an isolated sedoheptulokinase (SHPK) deficiency. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Both patients had elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense...
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