Difference between revisions of "Lysosomal acid lipase deficiency"
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(Created page with "'''Lysosomal acid lipase deficiency''', abbreviated as '''LAL-D''', is a lysosomal storage disorder that is inherited autosomal recessive.<ref>{{Cite journal | last1 = Re...") |
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'''Lysosomal acid lipase deficiency''', abbreviated as '''LAL-D''', is a [[lysosomal storage disorder]] that is inherited autosomal recessive.<ref>{{Cite journal | last1 = Reiner | first1 = Ž. | last2 = Guardamagna | first2 = O. | last3 = Nair | first3 = D. | last4 = Soran | first4 = H. | last5 = Hovingh | first5 = K. | last6 = Bertolini | first6 = S. | last7 = Jones | first7 = S. | last8 = Ćorić | first8 = M. | last9 = Calandra | first9 = S. | title = Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. | journal = Atherosclerosis | volume = 235 | issue = 1 | pages = 21-30 | month = Jul | year = 2014 | doi = 10.1016/j.atherosclerosis.2014.04.003 | PMID = 24792990 }}</ref> | '''Lysosomal acid lipase deficiency''', abbreviated as '''LAL-D''', is a [[lysosomal storage disorder]] that is inherited autosomal recessive.<ref>{{Cite journal | last1 = Reiner | first1 = Ž. | last2 = Guardamagna | first2 = O. | last3 = Nair | first3 = D. | last4 = Soran | first4 = H. | last5 = Hovingh | first5 = K. | last6 = Bertolini | first6 = S. | last7 = Jones | first7 = S. | last8 = Ćorić | first8 = M. | last9 = Calandra | first9 = S. | title = Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. | journal = Atherosclerosis | volume = 235 | issue = 1 | pages = 21-30 | month = Jul | year = 2014 | doi = 10.1016/j.atherosclerosis.2014.04.003 | PMID = 24792990 }}</ref> | ||
==General== | |||
*Diagnosis clinical: dried blood spot testing. | |||
==Microscopic== | |||
Features: | |||
*Microvesicular or mixed steatosis (microvesicular and macrovesicular). | |||
DDx: | |||
*[[Microvesicular steatosis]]. | |||
==References== | ==References== | ||
{{Reflist|1}} | {{Reflist|1}} | ||
[[Category:Diagnosis]] | |||
[[Category:Gastrointestinal pathology]] | [[Category:Gastrointestinal pathology]] | ||
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:
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.