- 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.
A new study, conducted by researchers from Brown University in Providence, Rhode Island, suggests that a healthy diet may protect the gut microbiome from being destroyed by antibiotics. For the purpose of the study the team treated three groups of mice with different...
According to a recent Japanese study, which is the first of its kind, eating mushrooms is associated with a lower risk of developing prostate cancer. For the study, a team of scientists analyzed data of 36,499 Japanese men aged from 40 to 79 years taken from the...
When it is so hot outside you still can find hundreds of ways to cool yourself and drinking a mocktail is one of them. Here are few wonderful recipes for you to try. Kiwi Sour 1 oz orange juice 3 slices kiwi 0.75 oz demerara green tea syrup 0.75 oz lime juice 1 oz...
Many people are motivated for active sports in spring. However, before you buy a membership, you should check which exercises are useful to you and which ones should not be done in any way. Unfortunately, nowadays there are practically no people with an absolutely...
In childhood, many of us dreamed of learning to jump high. Now, after years, it became easier - Kangoo Jumps has appeared. This is one of the relatively new, but quickly gaining popularity types of fitness training. There are several advantages of jumpers. ...