Metabolic diseases that may present as acute liver failure in children

Age	Condition
Less than 6 months	Galactosemia
	Niemann-Pick type C
	Tyrosinemia
	Glycosylation defect
	Mitochondrial disease^*
	LARS1 mutation (infantile liver failure syndrome type 1, MIM #615438)
	NBAS mutation (infantile liver failure syndrome type 2, MIM #616483)
7 months to 4 years	Mitochondrial disease^*
	Tyrosinemia
	Hereditary fructose intolerance
	Urea cycle defects
	LARS1 mutation
	NBAS mutation
5 years to 18 years	Wilson disease
	Mitochondrial disease^*
	Fatty liver of pregnancy

* Mitochondrial disease includes fatty acid oxidation defects, respiratory chain defects, and mitochondrial DNA depletion or damage (refer to UpToDate table on mitochondrial hepatopathies in infants). Mitochondrial disorders, especially Alpers-Huttenlocher disease (caused by POLG mutations), should be particularly suspected in patients presenting with valproate toxicity.

Modified with permission from: Squires J, Alonso E. Acute liver failure in children. In: Liver Disease in Children, 5th ed, Suchy FJ, Sokol RJ, Balistreri WF, et al (Eds), Cambridge University Press, 2021. p.36. Copyright © 2021 Cambridge University Press. Reproduced with permission of Cambridge University Press through PLSclear.

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Metabolic diseases that may present as acute liver failure in children