Medical Biochemistry

  https://masterniyasclinical.blogspot.com/2023/11/glycated-hemoglobin.html

Blood sugar levels refer to the amount of glucose present in the blood. Glucose is a type of sugar that serves as a primary source of energy for the body's cells. The two main types of blood sugar tests are fasting blood sugar and oral glucose tolerance test (OGTT). Fasting Blood Sugar (FBS): Normal Range: Typically, a normal fasting blood sugar level is considered to be less than 100 milligrams per deciliter (mg/dL). However, values between 100-125 mg/dL may indicate prediabetes, and levels of 126 mg/dL or higher on two separate tests usually indicate diabetes. Oral Glucose Tolerance Test (OGTT): Normal Range: A normal blood glucose level two hours after consuming a sugary drink during an OGTT is less than 140 mg/dL. Values between 140-199 mg/dL may suggest impaired glucose tolerance (prediabetes), and levels of 200 mg/dL or higher typically indicate diabetes. Random Blood Sugar Test: Normal Range: There is no standard "normal" range for a random blood sugar test, as ...

Galactosemia is a rare genetic disorder that affects the body's ability to metabolize galactose, a sugar found in milk and dairy products. Galactosemia is caused by a deficiency of one of the enzymes involved in the breakdown of galactose. There are three main types of galactosemia, each associated with a deficiency of a specific enzyme: Classic Galactosemia (Type I): Enzyme Deficiency: Galactose-1-phosphate uridyltransferase (GALT). Symptoms: Symptoms may appear shortly after birth and can include feeding difficulties, vomiting, diarrhea, failure to thrive, jaundice, liver damage, and cataracts. Treatment: The primary treatment is a strict galactose-free diet, which involves avoiding all sources of galactose, including breast milk, regular formula, and foods containing milk or lactose. Galactokinase Deficiency (Type II): Enzyme Deficiency: Galactokinase (GALK). Symptoms: This form of galactosemia is generally less severe. The main symptom is the accumulation of galactitol, a ...

Fructosuria is a rare metabolic disorder characterized by the presence of fructose in the urine due to the impaired metabolism of fructose. Fructose is a simple sugar found in fruits and honey and is a component of sucrose (table sugar). In individuals with fructosuria, there is a deficiency of the enzyme fructokinase, which is responsible for converting fructose into fructose-1-phosphate in the liver. Key points about fructosuria: Enzyme Deficiency: Fructosuria is caused by a deficiency of fructokinase, the enzyme responsible for the phosphorylation of fructose in the liver. Benign Condition: Fructosuria is generally considered a benign condition, as it does not lead to serious health problems or complications. Symptoms: Most individuals with fructosuria are asymptomatic. Unlike some other metabolic disorders, fructosuria does not typically cause significant health issues or developmental problems. Presence of Fructose in Urine: The hallmark of fructosuria is the presence of fructose ...

  Glycogen storage diseases (GSDs) are a group of rare genetic disorders characterized by abnormalities in the storage and release of glycogen in the body. Glycogen is a complex carbohydrate that serves as a stored form of glucose, primarily in the liver and muscles. In individuals with GSDs, there are enzyme deficiencies or defects in the proteins involved in glycogen metabolism, leading to the abnormal accumulation or breakdown of glycogen. There are several types of glycogen storage diseases, each associated with a specific enzyme deficiency. The severity and symptoms can vary depending on the type of GSD. Some common types include: GSD Type I (von Gierke disease): Enzyme Deficiency: Glucose-6-phosphatase Symptoms: Hypoglycemia (low blood sugar), enlarged liver, growth retardation, and elevated blood lactate levels. GSD Type II (Pompe disease): Enzyme Deficiency: Acid alpha-glucosidase Symptoms: Cardiomegaly (enlarged heart), muscle weakness, respiratory difficulties, and progre...