Citrullinemia
Citrullinemia is a legacy disorder that causes ammonia and other toxic substances to be stored in the blood. Two types of Citrullinemia are described; They have different signs and symptoms and are caused by mutations in different genes.
Type I Citrullinemia (also known as classic Citrullinemia) usually becomes apparent in the first few days of life. Affected infants generally appear normal at birth, but in the form of ammonia, they experience progressive deficiency of energy (lethargy), poor diet, vomiting, seizures, and loss of consciousness. Some affected people develop serious liver problems. Type I Citrullinemia health problems are life threatening in many cases. Less commonly, a lighter form of type i Citrullinemia can develop later in childhood or adulthood. The latter form is associated with the problem with acute headaches, blind spots (scotoma), balance and muscle coordination (Atexia), and lethargy. Some people with gene mutation that cause type I Citrullinemia do not experience the symptoms and symptoms of the disorder at all.
Type II Citrullinemia mainly affects the nervous system, which causes confusion, restlessness, memory loss, abnormal behavior (such as aggression, irritability and excessive activity), seizures and coma. Affected individuals often have specific food priorities, proteins prefer rich and fatty foods, and avoids carbohydrate rich foods. Symptoms and symptoms of this disorder usually appear during adulthood (adult-start) and can be triggered by taking drugs, infection, surgery, and alcohol. In adults with adult-start type II Citrullinemia, these signs and symptoms can be life-threatening.
Adult-start type II Citrullinemia may also develop in those, such as infants who have liver disorder, which is called neonatal intrahepatic cholestasis due to secretion deficiency (NCDD). This liver condition is also called neonatal-type type II Citrullinemia. NICDD blocks the flow of bile (a digestive fluid produced by the liver) and prevents the body from properly processing some nutrients. In many cases, the signs and symptoms of NICDD move within one year. In rare cases, after recovering from NICDD, affected persons have developed other signs and symptoms in early childhood, including delayed increase, extreme fatigue (fatigue), specific food preferences (described above), and blood fat (lipid) Contains unusual amounts of. (dyslipidemia). This condition is known as failure due to citrin deficiency (FTTDCD) and dyslipidemia. After years or even decades, some people with NICDD or FTTDCD develop the characteristics of adult-type type II Citrullinemia. Read More
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