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All › Congenital, Hereditary, and Neonatal Diseases and Abnormalities › Genetic Diseases, Inborn › Metabolism, Inborn Errors › Lipid Metabolism, Inborn Errors

Lipid Metabolism, Inborn Errors (10)

Articles on Lipid Metabolism, Inborn Errors

  1. Carnitine palmitoyltransferase-1A deficiency: a look at classic and arctic variants.
    Deanna M DM Dykema

    Adv Neonatal Care 12(1):23-7 (2012) PMID 22301540

    Carnitine palmitoyltransferase-1A (CPT-1A) deficiency is a defect of fatty acid metabolism that presents as an autosomal recessive inheritance. Carnitine palmitoyltransferase-1A is the rate-limiting enzyme that allows the body to process fats to provide energy during times of fasting...
  2. Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family.
    Sharon S Aharoni, Menachem M Sadeh, ... Rachel R Straussberg

    Isr Med Assoc J 13(10):632-4 (2011) PMID 22097235

  3. Mitochondrial fatty acid oxidation disorders. Proceedings of an international symposium. October 2008. Fulda, Germany.
    Author(s) unavailable

    J Inherit Metab Dis 33(5):467-634 (2010) PMID 21275107

  4. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening
    Roman Yusupov, David N Finegold, ... Harvey L Levy

    Mol Genet Metab 101(1):7 (2010) PMID 20580581

    We have experienced sudden death in four children with MCADD despite their detection by newborn screening. The purpose of this report is to alert others to the danger of sudden death in MCADD even when it is detected by newborn screening, to identify the clinical symptoms that precede sudden death,...
  5. Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
    Ni-Chung Lee, Nelson Leung-Sang Tang, ... Wuh-Liang Hwu

    Mol Genet Metab 100(1):5 (2010) PMID 20074989

    Carnitine uptake defect (CUD) is an autosomal recessive fatty acid oxidation defect caused by a deficiency of the high-affinity carnitine transporter OCTN2. CUD patients may present with hypoketotic hypoglycemia, hepatic encephalopathy or dilated cardiomyopathy. Tandem mass spectrometry screening of...
  6. Acylcarnitine analysis by tandem mass spectrometry.
    Emily H EH Smith and Dietrich D Matern

    Audio, Transactions of the... (2010) PMID 20063265

  7. Sweet and sour aspects of medium-chain acyl CoA dehydrogenase deficiency. Commentary on K. Yusuf et al.: Neonatal ventricular tachyarrhythmi...
    Terry G J Derks

    Neonatology 98(3):265-7 (2010) PMID 20414004

  8. A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storag...
    J J Chen, D D Hong, ... Y Y Yuan

    Clin Neuropathol 29(6):351-6 (2010) PMID 21073837

    We report the cases of two siblings manifesting slowly progressive proximal and distal limb weakness in adulthood. One of the patients had dilated cardiomyopathy, hearing loss and short stature. Muscle specimens of the 2 patients revealed muscular dystrophic features with massive lipid droplets and...
  9. Measurement of plasma/serum acylcarnitines using tandem mass spectrometry.
    Nathalie Lepage and Susan Aucoin

    Methods Mol Biol (2010) PMID 20077055

    We describe a method for the analysis of acylcarnitines in plasma or serum samples using electrospray ionization tandem mass spectrometry....
  10. Dorfman-Chanarin syndrome: a rare neutral lipid storage disease.
    Souvik S Mitra, Moumita M Samanta, ... Sukanta S Chatterjee

    Indian J Pathol Microbiol 53(4):799-801 (2010) PMID 21045422

    We report a case of a 20-month-old male with congenital ichthyosis, organomegaly, and bilateral cryptorchidism. Examination of the peripheral smear revealed lipid vacuoles in the leucocytes consistent with Jordan's anomaly, which was confirmed by transmission electron microscopy. Liver biopsy reveal...
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