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English Journal

Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene.

Brenton JN1, Rust RS2.
Pediatric neurology.Pediatr Neurol.2014 May;50(5):536-8. doi: 10.1016/j.pediatrneurol.2014.01.018. Epub 2014 Jan 11.
BACKGROUND: Atypical nonketotic hyperglycinemia is characterized by heterogeneous phenotypes that often include nonspecific behavioral problems, cognitive deficits, and developmental delays.PATIENT: We describe a girl with late-onset nonketotic hyperglycinemia presenting at 5 years of age with hypot
PMID 24731848

The SLC36 family of proton-coupled amino acid transporters and their potential role in drug transport.

Thwaites DT1, Anderson CM.
British journal of pharmacology.Br J Pharmacol.2011 Dec;164(7):1802-16. doi: 10.1111/j.1476-5381.2011.01438.x.
Members of the solute carrier (SLC) 36 family are involved in transmembrane movement of amino acids and derivatives. SLC36 consists of four members. SLC36A1 and SLC36A2 both function as H(+) -coupled amino acid symporters. SLC36A1 is expressed at the luminal surface of the small intestine but is als
PMID 21501141

Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.

Bröer S1, Bailey CG, Kowalczuk S, Ng C, Vanslambrouck JM, Rodgers H, Auray-Blais C, Cavanaugh JA, Bröer A, Rasko JE.
The Journal of clinical investigation.J Clin Invest.2008 Dec;118(12):3881-92. doi: 10.1172/JCI36625. Epub 2008 Nov 6.
Iminoglycinuria (IG) is an autosomal recessive abnormality of renal transport of glycine and the imino acids proline and hydroxyproline, but the specific genetic defect(s) have not been determined. Similarly, although the related disorder hyperglycinuria (HG) without iminoaciduria has been attribute
PMID 19033659

多田啓也,森川利夫,安藤敏幸,吉田稔男,皆川明文
The Tohoku Journal of Experimental Medicine 87(2), 133-143, 1965
… It was, therefore, suggested that hyperprolinuria associated with hyperglycinuria observed in the patients was of renal type. …
NAID 130003497603