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- Title
Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
- Authors
Friedman, Jennifer; Lucas‐Del‐Pozo, Sara; Moreno‐Martinez, David; Camprodon‐Gomez, Maria; Moreno‐Martinez, Daniel; Hernandez‐Vara, Jorge; Kurian, Manju A.
- Abstract
Keywords: Galactosemia; developmental delay; cerebral palsy EN Galactosemia developmental delay cerebral palsy S40 S41 2 09/06/21 20210802 NES 210802 Precise molecular diagnosis of individuals with developmental delay is important to guide management and future prognostication. Lucas-Del-Pozo and colleagues describe a patient with cerebral palsy (CP) diagnosed in adulthood with galactosemia highlighting the power of genomic sequencing to identify previously unsuspected metabolic disorders.1 Classic galactosemia is an inborn error of metabolism leading to toxic accumulation of galactose and derived metabolites. Galactosemia, developmental delay, cerebral palsy.
- Subjects
GALACTOSEMIA; NEONATAL sepsis; MAGNETIC resonance imaging; INBORN errors of metabolism; THERAPEUTICS; ANGELMAN syndrome
- Publication
Movement Disorders Clinical Practice, 2021, Vol 8, pS40
- ISSN
2330-1619
- Publication type
Article
- DOI
10.1002/mdc3.13304