2016
DOI: 10.1016/j.ejpn.2016.05.016
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Unusual association between lysinuric protein intolerance and moyamoya vasculopathy

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Cited by 6 publications
(3 citation statements)
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“…This latter was definitively associated with diffuse coronaropathy. We are the first to report a cardiac involvement but another vascular disease, moyamoya vasculopathy, was recently described in LPI [42]. The cycle of low plasma levels of arginine resulting in NO depletion, decreased arterial and coronary vasodilatation and ultimately ischemia has already been described [43].…”
Section: Discussionmentioning
confidence: 99%
“…This latter was definitively associated with diffuse coronaropathy. We are the first to report a cardiac involvement but another vascular disease, moyamoya vasculopathy, was recently described in LPI [42]. The cycle of low plasma levels of arginine resulting in NO depletion, decreased arterial and coronary vasodilatation and ultimately ischemia has already been described [43].…”
Section: Discussionmentioning
confidence: 99%
“…These may be having a common pathophysiology, and there are also genetic loci mutations that would, in addition, indicate higher susceptibility for MMD. [ 19 20 21 ] In a 2-year-old girl presenting with early onset of moyamoya syndrome with underlying DS, the genetic variant RNF213 p.R4810K was identified. [ 21 ]…”
Section: Discussionmentioning
confidence: 99%
“…We found five papers (5%) that described an association between moyamoya and metabolic disorders, including mucolipidosis II [ 36 ], protein S deficiency [ 37 ], CD59 deficiency [ 38 ], severe hyperhomocysteinemia [ 39 ], and lysinuric protein intolerance [ 40 ].…”
Section: Reviewmentioning
confidence: 99%