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First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Journal article published in 2015 by Mirjam M. C. Wamelink, Ruben J. J. F. Ramos, Annette P. M. van den Elzen, Annette P. M. Elzen, George J. G. Ruijter, Ramon Bonte, Luisa Diogo, Paula Garcia, Nelson Neves, Benjamin Nota ORCID, Arvand Haschemi ORCID, Isabel Tavares de Almeida, Isabel Tavares de Almeida, Gajja S. Salomons
This paper is available in a repository.
This paper is available in a repository.

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Abstract

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 mutation in SHPK. SHPK is an enzyme that phosphorylates sedoheptulose to sedoheptulose-7-phosphate, which is an important intermediate of the pentose phosphate pathway. It is questionable whether SHPK deficiency is a causal factor for the clinical phenotypes of our patients. This study illustrates the necessity of extensive functional and clinical workup for interpreting a novel variant, including nonsense variants.