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
(1) onset 1-2 years of age
(2) growth retardation
(4) preference for a diet low in carbohydrate (aversion for sugar)
(6) hepatic steatosis
(2) hyperlipidemia (dyslipidemia)
(1) cirrhosis with hepatoma (hepatocellular carcinoma)
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