disease associated with protien metabolism?

Question

metabolism, like ------ingestion,digestion, absorbtion,assimilation

Answer 1

Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.

A food product that is not metabolized (broken down into energy) can build up in the body and cause a wide array of symptoms.

Examples of diseases:

Fructose intolerance - is a metabolic disease caused by the absence of an enzyme, aldolase B.Ingestion of fructose causes profound hypoglycemia (low blood sugar) and progressive liver damage. The body is unable to convert its energy storage material, glycogen, into glucose. Subsequently, the blood sugar falls (hypoglycemia). In addition, blocks in the metabolic pathway of fructose processing will cause a build-up of substances that damage the liver.

Galactosemia is the inability of the body to metabolize the simple sugar galactose, causing the accumulation of galactose 1-phosphate in the body. This causes damage to the liver, central nervous system, and other body systems.

Maple syrup urine disease is an inherited disease of amino acid metabolism that causes acidosis, central nervous system symptoms, and urine that may smell sweet like maple syrup.

Phenylketonuria (PKU) is a rare condition in which the body does not properly metabolize an amino acid called phenylalanine.These substances are harmful to the central nervous system and cause brain damage. If the proteins containing phenylalanine are not avoided, PKU can lead to mental retardation by the end of the first year of life. Older children may develop movement disorders (such as athetosis) and hyperactivity.

Answer 2

In health, the liver orchestrates the metabolism of proteins and amino acids. When the liver is diseased, the regulation of protein metabolism is frequently disturbed. The manifestations of disturbed protein metabolism in liver disease are varied and change with disease aetiology and severity. The hallmarks of protein and amino acid metabolism in liver disease are lowered concentrations of circulating branched-chain and increased concentrations of circulating aromatic amino acids with concomitantly altered amino acid kinetics. The changes in amino acid kinetics in liver disease are characterized by increased endogenous leucine flux, an indicator of protein breakdown, and leucine oxidation in the post-absorptive state (when calculated using a reciprocal-pool model and normalized for body cell mass). In addition, the increase in whole-body protein synthesis in response to an amino acid infusion may be attenuated in patients with cirrhosis. These changes are often accompanied by clinically apparent muscle wasting, manifest as protein-calorie malnutrition, and associated low levels of hepatically synthesized plasma proteins. While the pathogenesis of these changes in protein and amino acid metabolism has not been elucidated, altered levels of circulating hormones, known to affect protein metabolism, are probably important. Lowered levels of micronutrients and trace metals and elevated levels of cytokines may also play a role.