Two Welsh mums whose sons suffer from Nonketotic Hyperglycinemia
(NKH) - a condition that can causes scores of seizures in a single day - want the opportunity to see if such a treatment might help their children.
For example, increased plasma glycine may be because of the metabolic disorder nonketotic hyperglycinemia
(NKH) but also secondary to valproate therapy.
Savery et al., "Glycine decarboxylase deficiency causes neural tube defects and features of nonketotic hyperglycinemia
in mice," Nature Communications, vol.
Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia
. Ann Neurol.
The youngster, who is visually impaired and has delayed development, has a disorder called Nonketotic hyperglycinemia
which means he suffers seizures.
Jack Duffy is one of only seven children in the UK diagnosed with nonketotic hyperglycinemia
(NKH), an inherited condition which attacks his brain.
(NKH) is an autosomal recessive disorder caused by a deficient glycine cleavage system, and generally results in elevated glycine levels in urine, blood, and cerebrospinal fluid (CSF).
Joseph Kendrick, who celebrated his fourth birthday yesterday, is one of only 500 people in the world with rare genetic disorder nonketotic hyperglycinemia
. Wigan Athletic boss Roberto Martinez and his players were determined the youngster and his family would share their big day by choosing him as the team mascot for Wembley.
Atypical variants of nonketotic hyperglycinemia
. Mol Genet Metab 2005; 86: 61-9.
Intracerebral blood and MRS in neonatal nonketotic hyperglycinemia
. Pediatr Neurol 2010;42:219-22.
Glycine has not been shown to be so consistently elevated at 24 hours of age as to make this useful in screening for nonketotic hyperglycinemia
, or NKH.
Jack, of High Heaton, suffers from nonketotic hyperglycinemia
(NKH), an inherited condition which left him suffering up to 60 seizures a day.