Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood.
Hachisu
Momoko
M
Tokyo Metropolitan Hachioji Children's Hospital, Tokyo, Japan.
Oda
Yoichiro
Y
Goto
Masahiro
M
Kobayashi
Keiko
K
Saheki
Takeyori
T
Ohura
Toshihiro
T
Noma
Seiji
S
Kitanaka
Sachiko
S
D000140:Acidosis, Lactic / Q000150:complications / Q000517:prevention & control; D002135:Calcium-Binding Proteins / Q000172:deficiency*; D002675:Child, Preschool; D002956:Citrulline / Q000032:analysis; D005260:Female; D005951:Glucose Tolerance Test; D006529:Hepatomegaly / Q000150:complications* / Q000517:prevention & control; D006801:Humans; D007003:Hypoglycemia / Q000150:complications* / Q000517:prevention & control; D007223:Infant; D007662:Ketosis / Q000150:complications*; D026901:Membrane Transport Proteins / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D009154:Mutation; D027361:Organic Anion Transporters / Q000172:deficiency*; D035781:Siblings; D013213:Starch / Q000627:therapeutic use
D002135:Calcium-Binding Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin; D002956:Citrulline; D013213:Starch