Lysosomal acid lipase deficiency
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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:
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.