Maple syrup urine disease
Definition
Pathophysiology
Clinical manifestations
Management
Diagnostic tests
References
Causes
Blood tests
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is caused by a reduction or defect in the LDL receptor, which is also called the apo B/E receptor because it binds both apolipoprotein B and apolipoprotein E. The LDL receptor is responsible for the uptake of LDL-C into the liver, which metabolizes approximately 70% of circulating LDL-C.
is a diagnosis which refers to individuals with very significantly elevated low-density lipoprotein cholesterol and an increased risk of early onset of coronary artery disease if not sufficiently treated.
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Chest pain (angina)
Coronary artery disease.
Fatty deposits around the body (xanthomas)
Cholesterol deposits on the eyelid (xanthelasmas)
Sores on the toes that do not heal.
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Administer Injectable medications which can help the liver absorb more LDL cholesterol which lowers the mount of cholesterol circulating in the blood.
Give Cholesterol absorption inhibitors. Which help the small intestine to absorb cholesterol from the diet and releases it into the bloodstream.
Give Bile-acid-binding resins. The liver uses cholesterol to make bile acids, a substance needed for digestion.
can be caused by inherited changes (mutations) in the LDLR, APOB, and PCSK9 genes.