https://stream.echo6.co/videos/watch/bd7b9d8d-c40c-4d08-9ca8-2cae8161794c Official Ninja Nerd Website: https://ninjanerd.org Ninja Nerds! In this high-yield biochemistry and clinical genetics lecture, Professor Zach Murphy delivers a clear and focused breakdown of three major peroxisomal disorders—Zellweger Syndrome, Refsum’s Disease, and X-linked Adrenoleukodystrophy. These rare but critical conditions highlight the importance of peroxisomal function in lipid metabolism and neurological development. We begin by reviewing the role of peroxisomes in cellular metabolism, including their involvement in very long-chain fatty acid (VLCFA) β-oxidation, branched-chain fatty acid metabolism, and plasmalogen synthesis. With this foundation, we dive into each disorder: Zellweger Syndrome is presented as a prototype of peroxisome biogenesis disorders. We discuss the genetic basis involving PEX gene mutations, the resulting absence of functional peroxisomes, and the multisystem consequences—hypotonia, seizures, craniofacial abnormalities, and early death. Refsum’s Disease is examined as a disorder of phytanic acid metabolism due to deficiency in phytanoyl-CoA hydroxylase. We explore its autosomal recessive inheritance, progressive neurological symptoms like ataxia and retinitis pigmentosa, and the importance of dietary restriction in management. X-linked Adrenoleukodystrophy (ALD) is covered in detail, emphasizing its defective ABCD1 transporter, accumulation of VLCFAs, and progressive demyelination in the CNS and adrenal insufficiency. We highlight the clinical variability and current treatment options including stem cell transplant and dietary therapy. This lecture ties biochemical pathways to clinical presentations, helping you integrate metabolic defects with neurologic and systemic findings for each condition. Enjoy the lecture and support us below! 0:00 Lab 0:32 VLCFA, BCFA, & Peroxisome's ABCD1 Transporters 1:59 F1: Beta-Oxidation of VLCFA Pathway (OHOT) 3:39 F2: Alpha-Oxidation of BCFA Pathway 4:36 F3: Ethanol Metabolism 5:49 F4: Bile Acid Activation & Metabolism 6:37 F5: Cholesterol Synthesis 8:11 F6: Plasmalogen Synthesis 9:30 F7: Catalase Activity for Reducing H2O2 Buildup 12:07 Zellweger Syndrome 14:45 Refsum's Disease 17:06 Adrenoleukodystrophy (ALD) 19:12 Comment, Like, SUBSCRIBE! 🌐 Official Links Website: https://www.ninjanerd.org Podcast: https://podcast.ninjanerd.org Store: https://merch.ninjanerd.org 📱 Social Media https://www.tiktok.com/@ninjanerdlectures https://www.instagram.com/ninjanerdlectures https://www.facebook.com/ninjanerdlectures https://x.com/ninjanerdsci/ https://www.linkedin.com/company/ninja-nerd/ 💬 Join Our Community Discord: https://discord.gg/3srTG4dngW #ninjanerd #Peroxisomes #CellBiology Wed, 15 Apr 2026 09:22:35 GMT https://validator.w3.org/feed/docs/rss2.html PeerTube - https://stream.echo6.co https://stream.echo6.co/client/assets/images/icons/icon-512x512.png https://stream.echo6.co/videos/watch/bd7b9d8d-c40c-4d08-9ca8-2cae8161794c All rights reserved, unless otherwise specified in the terms specified at https://stream.echo6.co/about and potential licenses granted by each content's rightholder.