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- Small red solid bumps or pus-filled pimples resembling acne - Visible Blood Vessels on the cheeks, nasal bridge, and other areas of the central face
In a follow-up study, the same group demonstrated that HPDL deficiency induces a lethal form of mitochondrial encephalopathy and, importantly, supplementation with HPDL-derived intermediates (4-HMA or 4-HB) was sufficient to alleviate disease symptoms
USA (2010)
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