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Abnormal CSF aspartate family amino acid concentration

MedGen UID:
1703173
•Concept ID:
C5139590
•
Finding
Synonym: Abnormal aspartate-family amino acid levels in cerebrospinal fluid
 
HPO: HP:0500205

Definition

Any deviation from the normal concentration of aspartate-family amino acids in the cerebrospinal fluid. [from HPO]

Recent clinical studies

Diagnosis

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN
Am J Hum Genet 2016 Nov 3;99(5):1172-1180. Epub 2016 Oct 20 doi: 10.1016/j.ajhg.2016.09.004. PMID: 27773429Free PMC Article

Clinical prediction guides

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
Kurolap A, Armbruster A, Hershkovitz T, Hauf K, Mory A, Paperna T, Hannappel E, Tal G, Nijem Y, Sella E, Mahajnah M, Ilivitzki A, Hershkovitz D, Ekhilevitch N, Mandel H, Eulenburg V, Baris HN
Am J Hum Genet 2016 Nov 3;99(5):1172-1180. Epub 2016 Oct 20 doi: 10.1016/j.ajhg.2016.09.004. PMID: 27773429Free PMC Article

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