Citrin deficiency mimicking mitochondrial depletion syndrome

HIGHLIGHTS

• who: S. C. Grünert from the (UNIVERSITY) have published the article: Citrin deficiency mimicking mitochondrial depletion syndrome, in the Journal: (JOURNAL)
• what: The authors report on two siblings, of whom the first was diagnosed with typical symptoms at the age of 8 weeks, while the younger brother was diagnosed immediately after birth.

SUMMARY

Aspartate shuttle. Three age-dependent clinical phenotypes are associated with CD, namely 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) usually manifesting in newborns or infants, 2) failure to thrive and dyslipidemia caused by citrin deficiency . . .

 



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