hyperketonemia
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ketonemia — The presence of recognizable concentrations of ketone bodies in the plasma. [ketone + G. haima, blood] * * * ke·to·ne·mia or chiefly Brit ke·to·nae·mia .kēt ə nē mē ə n 1) a condition marked by an abnormal increase of ketone bodies in the… … Medical dictionary
Pyruvate carboxylase — Protein Name=PAGENAME caption= Symbol=PC AltSymbols= HGNCid=8636 Chromosome=11 Arm=q Band=11 LocusSupplementaryData= q13.1 ECnumber=6.4.1.1 OMIM=608786 EntrezGene=5091 RefSeq=NM 000920 UniProt=P11498 PDB=Pyruvate carboxylase is an enzyme of the… … Wikipedia
type 0 — an autosomal recessive disorder due to mutation in the GYS2 gene (locus: 12p12.2), which encodes the liver isozyme of glycogen synthase, resulting in decreased hepatic glycogen stores. Patients present in early infancy with early morning… … Medical dictionary
