Citrin Deficiency: Failure to Thrive and Dyslipidemia Caused by Citrin Deficiency (FTTDCD)

 

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) onset 1-2 years of age

(2) growth retardation

(3) fatigue

(4) preference for a diet low in carbohydrate (aversion for sugar)

(5) pancreatitis

(6) hepatic steatosis

 

Laboratory findings:

(1) hypoglycemia

(2) hyperlipidemia (dyslipidemia)

 

Complications:

(1) cirrhosis with hepatoma (hepatocellular carcinoma)