Pub. Date : 2013 May
PMID : 23589815
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | We report a 30-day-old patient with mutations in the SLC19A3 gene who presented with acute encephalopathy and increased level of lactate in the blood (8.6 mmol/L) and cerebrospinal fluid (7.12 mmol/L), a high excretion of alpha-ketoglutarate in the urine, and increased concentrations of the branched-chain amino acids leucine and isoleucine in the plasma. | Leucine | solute carrier family 19 member 3 | Homo sapiens |