   2.7.1.14 | medicine |
patient with an isolated sedoheptulokinase deficiency presents with neonatal cholestasis, hypoglycemia, and anemia, while a second patient presents with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Both patients have elevated excretion of erythritol and sedoheptulose, and each has a homozygous nonsense mutation in sedoheptulokinase. In fibroblasts from patient 1, strongly reduced formation of sedoheptulose 7-phosphate is detected, but no mature enzyme. It is questionable whether enzyme deficiency is a causal factor for the clinical phenotypes of the patients |
738810 |
