Clinical manifestation of Phenylketonuria

Phenylketonuria (PKU) is a genetic disorder characterized by the inability to metabolize phenylalanine, an amino acid found in many protein-containing foods. 

Clinical manifestations include intellectual disability, developmental delays, seizures, and behavioral issues. If untreated, elevated phenylalanine levels can lead to severe neurological problems. 

Early detection through newborn screening and dietary management are crucial for better outcomes.

In Phenylketonuria (PKU), the key enzyme affected is phenylalanine hydroxylase, responsible for converting phenylalanine to tyrosine.

Diagnosis involves newborn screening, measuring elevated phenylalanine levels in blood.

Treatment primarily focuses on a phenylalanine-restricted diet, low in protein, and supplemented with special formula. 

Monitoring phenylalanine levels is crucial, and some individuals may require lifelong adherence to the diet to prevent intellectual and developmental issues. 

Enzyme replacement therapy is being explored but isn't yet a standard treatment. Early intervention is critical for managing PKU effectively.

Comments

Post a Comment

Popular posts from this blog

Glycated hemoglobin

Image
Glycated hemoglobin, often referred to as HbA1c, is a crucial indicator used in the management of diabetes mellitus. It provides valuable information about a person's average blood glucose levels over the past 2 to 3 months. Here's an overview of glycated hemoglobin and its significance: Formation of Glycated Hemoglobin: Normal Process: Hemoglobin is a protein in red blood cells that carries oxygen from the lungs to the rest of the body. When blood glucose levels are elevated, some glucose molecules spontaneously bind to hemoglobin. This process is known as glycation. Glycation Over Time: The higher the blood glucose levels, the more glucose binds to hemoglobin. This glycation process occurs continuously over the lifespan of red blood cells, which have a lifespan of about 120 days. Measurement and Significance: HbA1c Measurement: HbA1c is expressed as a percentage of total hemoglobin. For individuals without diabetes, the normal range is typically below 5.7%. In people with dia...
Read more

Dyslipoproteinemia.

Dyslipoproteinemia refers to an abnormal concentration of lipoproteins in the blood. Lipoproteins are complexes of lipids and proteins that transport fats, including cholesterol and triglycerides, in the bloodstream. Dyslipoproteinemia can involve abnormalities in the levels or composition of various lipoproteins and is often associated with an increased risk of cardiovascular disease. There are several types of dyslipoproteinemia, each characterized by specific abnormalities in lipoprotein metabolism. Some common types include: Hyperlipoproteinemia: Type I Hyperlipoproteinemia (Fredrickson Type I): This type is characterized by elevated levels of chylomicrons, which are lipoproteins that transport dietary fats. It is associated with a risk of pancreatitis due to the accumulation of triglycerides. Type II Hyperlipoproteinemia (Fredrickson Types IIa and IIb): Type IIa involves elevated levels of low-density lipoprotein cholesterol (LDL-C). Type IIb involves elevated levels of both LDL-...
Read more