Citrin deficiency presents in a number of syndromes, one of which affects young children. This is termed 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)



(1) cirrhosis with hepatoma (hepatocellular carcinoma)


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