This website provides information on patients with mutations in the UGDH (UDP-GLUCOSE DEHYDROGENASE) gene, including clinical data, molecular data, management and research options.
The syndrome caused by recessive loss-of-function mutations in the UGDH gene is a neurodevelopmental disorder characterized by developmental and epileptic encephalopathy. Affected individuals present with global developmental delay, speech impairment, intellectual disability and epilepsy. Other features include axial hypotonia, movement disorder and feeding difficulties. Brain imaging may show non-specific findings including delayed myelination enlarged ventricles, cerebral atrophy, cerebellar atrophy, and thin corpus callosum. Facial features may include protruding ear lobes, ptosis, deep set eyes, epicanthal folds, short flat philtrum, full lower lip and pointed chin.
The severity of this disorder is variable. Not all individuals with a mutation in the UGDH gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the UGDH gene.
Saumya Shekhar Jamuar, Clinician, Women’s and Children’s Hospital, Singapore, firstname.lastname@example.org
Bruno Reversade, Molecular geneticist, Genome Institute of Singapore, Singapore, email@example.com