Question

(biochemistry) Write 3-5 pages in WORD about at least 3 diseases caused by disrder in protien or amino acid metabolism:

- mechanism of the disease

-symptoms

- Treatment if any

Answer 1

Metabolism is a process in which the body uses the energy from the food that we eat. The digestive system will breaks down the food into sugars and acid which is called the body’s fuel. The fuel will use by the body or it can be store the energy in the body. If any metabolic disorders will occur then the entire body’s process will change. One of these metabolic disorders includes the amino acid metabolism disorders.

              Amino acids are the building blocks that will join together to form proteins. If the body is having the amino acid metabolic disorder then there may be a trouble of breaking down certain amino acids or there may be a problem of getting the amino acids in to the cells. This will cause the development of harmful substance in the body and will leads to serious health problems.

There are certain diseases that can occur due to the amino acid metabolic disorder includes:

1) Phenylketonuria

2) Tyrosinemia

3) Maple syrup urine disease

Let’s discuss the each disease with their mechanism of action, symptoms and the treatment for the particular conditions.

1) Phenylketonuria

        Phenylketonuria is a birth defect disorder that affects the metabolism which will results in the decreased metabolism of the amino acid- Phenylalanine. This phenylketonuria can leads to brain damage, behavioral symptoms, seizures, intellectual disabilities etc.

Mechanism of the disease

      Phenylketonuria (PKU) is a genetic disorder that will inherit from a person’s parents itself. This will occurs due to the mutation of PAH (Phenylalanine Hydroxylase) gene, which will results in the low levels of Phenylalanine Hydroxylase enzyme and this will leads to the buildup of the dietary phenylalanine up to the toxic levels.

Symptoms

· Seizure development

· Skin rashes

· Musty odor in the breath, urine and skin which caused by the excess phenylalanine in the body

· Microcephaly

· Hyperactivity

· Intellectual disabilities

· Behavioral problems

· Psychiatric problems

· Delayed development

Treatment

· Maintain a strict diet with limited protein content foods intake

· Sapropterin dihydrocholride drug – This drug will helps to breakdown the Phenylalanine.

2) Tyrosinemia

            Tyrosinemia is a genetic disorder which is characterized by inability of the body in the breakdown of the amino acid tyrosine and if it is untreated the tyrosine and its byproducts will develop in the tissues and organs which will cause health issues

Mechanism of the disease

         Tyrosinemia is a genetic disorder which is cause by the elevated blood levels of the amino acid tyrosine which is the building block of the proteins. This condition occurs due to the shortage of fumarylacetoacetate hydrolase enzyme which helps for the breakdown of the tyrosine.

Symptoms

· Painful lesions in the skin

· Cabbage like odor

· Diarrhea

· Vomiting

· Poor weight gain

· Intellectual disabilities

· Convulsions

· Failure to thrive

· Red eyes

· Corneal clouding

Treatment

· Reduce the intake of proteins in the diet

· Nitisinone drug - This drug will helps to prevent the toxic breakdown of the products.

3) Maple Syrup urine disease

               Maple syrup urine disease is an inherited metabolic disorder in which the body is not able to breakdown the certain amino acids. This disorder is affecting the branched chain amino acids.

Mechanism of the disease

              Maple syrup urine disease is an inborn metabolic disorder that occurs due to the defect in the branched-chain α-ketoacid dehydrogenase complex which will cause the elevation of branched-chain amino acids (BCAAs) in plasma, α-ketoacid in urine, and the production of the pathognomonic disease marker called alloisoleucine.

Symptoms

· Weight loss

· Poor appetite

· Maple sugar odor in the sweat, urine and ear wax

· Irregular sleep pattern

· Delayed development

· High pitched cry

· Irritability

· Lethargy

· Seizures

· Poor growth

· Neurological deficiencies

· Feeding problems

Treatment

· Dietary restriction of the intake of Branched chain amino acids (BCAA)

· Treatment of the episodes of the metabolic decompensation by administering the intravenous glucose infusions to promote anabolism.