Inborn errors of metabolism Tessa Davis Cite this article as: Tessa Davis. Inborn errors of metabolism, Don't Forget the Bubbles, 2020. Available at: https://doi.org/10.31440/DFTB.29302 DisorderExamplesBasic pathophysiologyBlood gasAmmoniaGlucoseKetonesLactate Urea cycle disordersOTC deficiencyDefect in breakdown of nitrogen → ammoniaRespiratory alkalosis/normal↑↑↑--- Amino acid disordersPKU, MSUD, homocystinuriaDefect in breakdown of amino acidsMetabolic acidosis (↑ anion gap)↑/-↓↑ (MSUD ↑↑↑ urinary ketones)- Organic acid disordersPropionic, MMAAccumulation of organic acidsMetabolic acidosis (↑ anion gap)↑↓↑↑ Lysosomal storage disordersMPS, Pompe, Gaucher, Niemann-PickAccumulation of proteins/lipids----- Glycogen storage disordersGSD types I-IXDefect in glycogen synthesisMetabolic acidosis-↓↑↑ Fatty acid oxidation disordersMCADD, LCADD, VLCADDUnable to break down fatty acids → ketonesMetabolic acidosis (↑ acidosis)-↓↓-/↑ Mitochondrial disordersMELASInsufficient acetyl coA for Krebs cycle → ↓ ATPMetabolic acidosis--/↑-↑↑ Peroxisomal disordersXL, ADL, Refsum, Zellweger↓ metabolism of VLCFA, ↓ bile synthesis----- References UpToDate September 26, 2020
Inborn errors of metabolism
Tessa Davis. Inborn errors of metabolism, Don't Forget the Bubbles, 2020. Available at:
https://doi.org/10.31440/DFTB.29302
References
UpToDate