Difference between revisions of "Lysosomal acid lipase deficiency"
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DDx: | DDx: | ||
*[[Microvesicular steatosis]]. | *[[Microvesicular steatosis]]. | ||
==See also== | |||
*[[Medical liver disease]]. | |||
*[[Lysosomal storage disease]]. | |||
==References== | ==References== | ||
Revision as of 15:39, 12 June 2017
Lysosomal acid lipase deficiency, abbreviated as LAL-D, is a lysosomal storage disorder that is inherited autosomal recessive.[1]
General
- Diagnosis clinical: dried blood spot testing.
Microscopic
Features:
- Microvesicular or mixed steatosis (microvesicular and macrovesicular).
DDx:
See also
References
- ↑ Reiner, Ž.; Guardamagna, O.; Nair, D.; Soran, H.; Hovingh, K.; Bertolini, S.; Jones, S.; Ćorić, M. et al. (Jul 2014). "Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction.". Atherosclerosis 235 (1): 21-30. doi:10.1016/j.atherosclerosis.2014.04.003. PMID 24792990.