- Curvature of spine.
- Decreased vision that gets worse over time.
- Developmental delay.
- Failure to thrive (grow) in infancy.
- Muscle weakness.
- Poor muscle coordination that usually develops after age 10.
- Protruding abdomen.
- Slurred speech.
- Stool abnormalities, including:Fatty stools that appear pale in color, frothy stools, abnormally foul-smelling stools.
- Iron and folate may be deficient.
- Direct antibody test results are negative.
- Blood group may show McLeod or null Lutheran phenotype.
- Total bilirubin and lactate dehydrogenase levels are elevated, reflecting the degree of hemolysis.
- Liver function tests and total protein and albumin levels are abnormal in liver disease.
- Serum creatine kinase is elevated in chorea-acanthocytosis and McLeod syndrome.
- Plasma lipid profile may be abnormal. In abetalipoproteinemia, plasma cholesterol levels are very low, less than 50 mg/dL. Plasma phospholipid levels are very low. Plasma apolipoprotein B is absent. Chylomicrons, VLDLs, and LDLs are absent. Serum triglyceride levels are very low, less than 10 mg/dL. Plasma sphingomyelin levels are relatively increased at the expense of lecithin.
- Levels of fat-soluble vitamins E, A, D, or K are decreased in abetalipoproteinemia, hypobetalipoproteinemia, and malnutrition.
- Prothrombin time (PT) is prolonged in vitamin K deficiency.
- Fecal fat is elevated in abetalipoproteinemia, hypobetalipoproteinemia, and malnutrition.
- MTP (microsomal triglyceride transfer protein) or APOB or ApoB sequencing may identify mutations (not widely available).
- Endocrine studies may reflect hypothyroidism or panhypopituitarism.
- Blood tests to look for vitamin deficiencies (fat-soluble vitamins A, D, E, and K).
- Complete blood count (CBC).
- Cholesterol studies.
- Eye exam.
- Nerve conduction velocity.
- Stool sample analysis.
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