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) sudden onset >= 11 years of age
(2) neuropsychiatric symptoms
(2a) aggression, irritability, restlessness, hyperactivity
(2b) nocturnal delirium, delusions, disorientation, memory loss, personality change
(2c) seizures, flapping tremor
(3) preference for a diet low in carbohydrate (aversion for sugar)
(4) thin habitus resembling anorexia nervosa
(5) hepatic steatosis
(6) variable pancreatitis
Laboratory findings:
(1) recurrent hyperammonemia
(2) hyperlipidema
Episodes may be triggered by:
(1) medications
(2) alcohol
(3) physiologic stress such as surgery
(4) sugar or carbohydrate intake
Complications:
(1) cirrhosis with hepatoma (hepatocellular carcinoma)
(2) cerebral edema
(3) altered mental status (drowsiness, coma)
