• Cholesterol, HDL, LDL, triglycerides: Tangier disease. Abetalipoproteinemia. Smith-Lemli-Opitz, Cerebrotendinous Xanthomatosis, and other cholesterol synthesis disorders.
  • Alpha-fetoprotein: Ataxia-telangiectasia, Ataxia with oculomotor apraxia type 1 and type 2.
  • Uric acid: Lesch-Nyhan.
  • MCV: Alpha-thalassemia mental retardation syndrome, X-linked.
  • Ferritin. Neuroferritinopathies.
  • TSH, FT4, FT3. Allan-Herndon-Dudley. Benign hereditary chorea.
  • Peripheral blood smear:
    • Acanthocytes: Neuroacanthocytosis. McLeod syndrome. Wolman disease. Abetalipoproteinemia.
    • Vacuolated lymphocytes: Lysosomal storage diseases, NCL.
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