Guide To Metabolic Disorders

Familial Hypercholesterolemia

Familial hypercholesterolemia is an inherited condition that causes an individual to have high cholesterol. Mutations in the FH genes located on different chromosomes are what causes an individual to have familial hypercholesterolemia. There are no symptoms in an individual who has high cholesterol until damage has been done to the blood vessels. Symptoms that occur in familial hypercholesterolemia precipitated tissue damage include chest pain with exertion, fatty deposits on multiple parts of the body, cholesterol deposits around the eyelids, and gray-white cholesterol deposits around the patient's corneas. Blood tests are used to diagnose familial hypercholesterolemia in patients that measure levels of total cholesterol and low-density lipoprotein (LDL) cholesterol. Individuals are diagnosed by meeting criteria with total cholesterol levels over 260 milligrams per deciliter in children and 290 milligrams per deciliter in adults. Levels of LDL cholesterol in patients are over 155 milligrams per deciliter in children and 190 milligrams per deciliter in adults. Genetic testing may also be conducted to diagnose familial hypercholesterolemia. Treatment involves taking cholesterol-lowering medications and adhering to a strict diet.

Uncover the next metabolic disorder now.

Tay-Sachs Disease

Tay-Sachs disease is a disease seen primarily in infants that has adverse effects on the nervous system. It is a progressive neurodegenerative disorder and is fatal in almost all cases. This disease is caused by a genetic mutation on chromosome 15 that results in the absence of a protein referred to as hexosaminidase A. Brain cells are destroyed by a buildup of chemicals referred to as gangliosides when an individual does not have hexosaminidase A. Symptoms of infantile Tay-Sachs disease include decreased muscle strength, blindness, deafness, increased startle response, paralysis, seizures, slow growth, and spasticity. Late-onset forms of Tay-Sachs disease produce symptoms such as muscle weakness, unsteady gait, tremors, slurred speech, and memory problems. Certain prenatal tests, including amniocentesis and chorionic villus sampling, can detect Tay-Sachs disease before an individual's birth. Blood enzyme analysis and eye exams are performed to diagnose late-onset forms of Tay-Sachs disease. There is no method of treatment for Tay-Sachs disease aside from palliative care with pain medication, anti-epileptics, feeding tubes, physical therapy, and respiratory care.

Discover additional metabolic disorders now.