Recent Advances in Patient Treatment and Care (Track)
Therapeutic Benefits Of Ketogenic Diet In Nonketotic Hyperglycinemia
Vladimir Bzduch
First Department of Pediatrics
University Children´s Hospital, Bratislava, Slovakia
Abstract:
Nonketotic hyperglycinemia (NKH) is a devastating neurometabolic disorder, leading to early death or severe disability. No effective treatment is available, so we used ketogenic diet in infant with classical neonatal form of NKH.
Male proband developed lethargy, muscular hypotonia, myoclonic seizures, and respiratory insufficiency on the second day of life. At the age of 6 weeks, aminoacid analysis showed highly elevated concentrations of glycine in plasma (768 µmol/L, normal < 370), cerebrospinal fluid (CSF) (124µmol/L, normal < 10,1 ) and urine (3580,8 mmol/mol creat.). CSF/plasma glycine ratio was markedly elevated (0,16). Treatment with sodium benzoate (500mg/kg/day) dextromethorphan (5 mg/kg/day) and L-carnitine (50mg/kg/day) was started. Despite such treatment the child was still extremely hypotonic. At the age of 18 months, ketogenic diet was used and sodium benzoate and dextromethorphan was gradually discontinued. After one year of ketogenic diet, CSF glycine markedly decreased (52,2 µmol/L), hypotonia and muscle strength improved, alertness increased and seizures ceased.
Experience of other patients with NKH are required to confirm this significant effect of ketogenic diet on CSF glycine.
