First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?
| Autor: | Nelson Neves, Ruben Ramos, Gajja S. Salomons, Ramon Bonte, Mirjam M.C. Wamelink, George J. G. Ruijter, Isabel Tavares de Almeida, Arvand Haschemi, Luísa Diogo, Benjamin Nota, Annette P. M. van den Elzen, Paula Garcia |
|---|---|
| Přispěvatelé: | Clinical Genetics, Laboratory Medicine, NCA - Brain mechanisms in health and disease, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease |
| Rok vydání: | 2015 |
| Předmět: |
Male
medicine.medical_specialty Anemia media_common.quotation_subject Nonsense mutation Nonsense Consanguinity Gastroenterology Pentose Phosphate Pathway chemistry.chemical_compound SDG 3 - Good Health and Well-being Internal medicine Genetics Medicine Humans Genetics(clinical) Neonatal cholestasis Genetics (clinical) media_common Arthrogryposis Cholestasis business.industry medicine.disease Heptoses Hypoglycemia Phosphotransferases (Alcohol Group Acceptor) Sedoheptulose Endocrinology Phenotype chemistry Codon Nonsense Child Preschool Original Article Female Sugar Phosphates medicine.symptom business Sedoheptulokinase Transcription Factors |
| Zdroj: | Wamelink, M M C, Ramos, R J J F, van den Elzen, A P M, Ruijter, G J G, Bonte, R, Diogo, L, Garcia, P, Neves, N, Nota, B, Haschemi, A, de Almeida, I T & Salomons, G 2015, ' First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? ', Journal of Inherited Metabolic Disease, vol. 38, no. 5, pp. 889-894 . https://doi.org/10.1007/s10545-014-9809-1 Journal of Inherited Metabolic Disease Journal of Inherited Metabolic Disease, 38(5), 889-894. Springer Netherlands |
| ISSN: | 0141-8955 |
| DOI: | 10.1007/s10545-014-9809-1 |
| Popis: | 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. Electronic supplementary material The online version of this article (doi:10.1007/s10545-014-9809-1) contains supplementary material, which is available to authorized users. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink