Progressive Neurodegenerative Disorder in a Patient with Nonketotic Hyperglycinemia
Overview
Affiliations
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.
Swanson M, Miller K, Young S, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J J Inherit Metab Dis. 2022; 45(4):734-747.
PMID: 35357708 PMC: 9543955. DOI: 10.1002/jimd.12500.
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker 2nd P, Friederich M, Swanson M, Shaikh T, Bhattacharya K, Scharer G Brain. 2013; 137(Pt 2):366-79.
PMID: 24334290 PMC: 3914472. DOI: 10.1093/brain/awt328.
Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia.
Kikuchi G, Motokawa Y, Yoshida T, Hiraga K Proc Jpn Acad Ser B Phys Biol Sci. 2008; 84(7):246-63.
PMID: 18941301 PMC: 3666648. DOI: 10.2183/pjab.84.246.
Sequential MR imaging changes in nonketotic hyperglycinemia.
Mourmans J, Majoie C, Barth P, Duran M, Akkerman E, Poll-The B AJNR Am J Neuroradiol. 2006; 27(1):208-11.
PMID: 16418385 PMC: 7976062.
Benzoate treatment and the glycine index in nonketotic hyperglycinaemia.
Van Hove J, Vande Kerckhove K, Hennermann J, Mahieu V, Declercq P, Mertens S J Inherit Metab Dis. 2005; 28(5):651-63.
PMID: 16151895 DOI: 10.1007/s10545-005-0033-x.