Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. [electronic resource]
- Annals of neurology Feb 2006
- 411-5 p. digital
Publication Type: Case Reports; Journal Article
0364-5134
10.1002/ana.20759 doi
Aldehydes--cerebrospinal fluid Amino Acid Oxidoreductases--metabolism Carrier Proteins--metabolism DNA Mutational Analysis--methods Epoxy Compounds--cerebrospinal fluid Excitatory Amino Acid Antagonists--therapeutic use Female Follow-Up Studies Glycine Dehydrogenase--genetics Humans Hyperglycinemia, Nonketotic--cerebrospinal fluid Infant, Newborn Ketamine--therapeutic use Multienzyme Complexes--metabolism Mutation Prospective Studies Sodium Benzoate--therapeutic use Transferases--metabolism