Fatty Acid Metabolic Disorders



Fatty Acid Metabolic Disorders


Monica P. Revelo, MD, PhD

Dylan V. Miller, MD









Anterior view of the heart from a 2-day-old male with a fatty acid metabolic disorder shows enlargement and a globular shape.






Transverse section of the heart from a 2-day-old male with a fatty acid metabolic disorder shows biventricular hypertrophy.


TERMINOLOGY


Synonyms



  • Fatty acid oxidation disorders (FAOD)



ETIOLOGY/PATHOGENESIS


Most Common Genetic Abnormalities



  • Medium-chain acyl-coenzyme A dehydrogenase (MCAD): A985G


  • Long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD): G1528C


  • Carnitine transporter defect (CTD): SLC22A5


  • Carnitine palmitoyltransferase 1A (CPT1A) and 2 (CPT2), mitochondrial trifunctional protein (MTP), very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: Heterogeneous mutations


CLINICAL ISSUES


Presentation



  • Cardiac



    • Sudden infant death


    • Cardiomyopathy


    • Arrhythmias


    • Heart failure


    • Conduction anomalies


  • Metabolic



    • Episodic hypoketotic hypoglycemia


    • Metabolic acidosis


  • Other



    • Rhabdomyolysis


    • Muscle weakness


    • Hepatic failure


    • Peripheral neuropathy


    • Pigmentary retinopathy


    • Maternal hemolysis, elevated liver enzymes, and low platelets (HELLP syndrome)

Jul 8, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Fatty Acid Metabolic Disorders
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