Chromosome location: 7q21.3
Gene affected: SLC25A13
Protein: calcium-binding mitochondrial carrier protein Aralar2
Function: liver-type aspartate-glutamate carrier isoform 2 (AGC2)
Deficiency affects aerobic glycolysis, gluconeogenesis, urea cycle, protein synthesis, nucleotide synthesis
Inheritance: autosomal recessive
Clinical features:
(1) age < 1 year
(2) transient neonatal intrahepatic cholestasis
(3) hepatomegaly with diffuse fatty liver (steatosis)
(4) failure to thrive and growth retardation
(5) positive response to a diet low in carbohydrate (with high protein, high triglyceride, etc)
Laboratory findings:
(1) hypoproteinemia
(2) coagulopathy due to decrease in coagulation factors
(3) hemolytic anemia
(4) variable hypoglycemia
(5) elevated plasma amino acids: citrulline, methionine, threonine
Complications:
(1) cirrhosis
(2) acute liver failure
(3) severe infection(s)
(4) life-threatening bleeding
