#Lathosterolosis

[xunyi1984]

Disorders of cholesterol biosynthesis: desterolosis, mevalonate kinase deficiency, lathosterolosis, sitosterolemia

Inherited disorders of cholesterol biosynthesis are a group of inherited metabolic disorders (IEMS) that affect the body’s ability to produce cholesterol and other sterols. Because cholesterol plays a key role in cellular structure, signaling, and function, these disorders can lead to a variety of clinical manifestations. This group of disorders includes: Smith-Lemly-Opitz syndrome, desterolosis,…

[xunyi1984]

Inherited disorders of cholesterol biosynthesis are a group of inherited metabolic disorders (IEMS) that affect the body's ability to produce cholesterol and other sterols. Because cholesterol plays a key role in cellular structure, signaling, and function, these disorders can lead to a variety of clinical manifestations. This group of disorders includes: Smith-Lemly-Opitz syndrome, desterolosis, Conradi-Hünermann-Happle syndrome, mevalonate kinase deficiency, Lathosterolosis, sitosterolemia, sterol C4-methyloxidase-like (SC4MOL) deficiency, familial hypercholesterolemia FH, cerebrotendinous xanthomatosis (CTX), and others. Cholesterol metabolism in the brain: Because disorders of cholesterol metabolism are often accompanied by central nervous system (CNS) pathology, it is important to consider some unique aspects of cholesterol metabolism in the brain. Unesterified cholesterol is an essential component of the plasma membrane of all cells, but is particularly high in brain cells. It is a major component of dense myelin, a specialized form of the plasma membrane of oligodendrocytes. Although the brain accounts for only about 2% of total body weight, brain cholesterol accounts for about 23% of the sterol content in mammals. It is distributed between the myelin sheath and the plasma membrane of neurons and glial cells. These diseases often manifest as developmental, neurological, and physical abnormalities. Early diagnosis and management are essential to improve outcomes, although treatment options may be limited and often focus on symptom relief and supportive care. Genetic counseling is also an important part of managing these diseases. In addition to evaluating the patient's development, the diagnosis of such diseases also requires analysis and evaluation in combination with the patient's family genetic history, skin abnormalities, heart, and liver abnormalities. After the evaluation and analysis, it is necessary to collect clues such as the patient's clinical manifestations and specific biochemical tests for genetic testing diagnosis.