DISORDERS or DISEASES RELATED TO PROTEIN

I am going to tell you about some name of diseases and disorders related to protein. I don't want to make this blog page like any encyclopaedia. I just go through few tables in which you get name of diseases and proteins related to them. This will be easy to remember them.

First thing is why study diseases and disorders related to protein. 

The simple answer is we already know that there is something that present in our diet, called protein, and it's very important for us and already known about its benefits. But this is not enough, because everything in world have double face, that means, today I am going to tell about the other face of protein.

We already study about the structure, function and metabolism of proteins in my last blog related to Protein.

When abnormalities found in structure of the protein, called proteopathies.

When abnormalities are related to metabolism of proteins, called metabolic disorder. There are 2 main types of metabolic disorder related to protein.

1. Maple syrup urine disease (MSUD)

Urine of the affected individual smell like Maple Syrup or burned sugar. MSUD prevents your body from breaking down of certain amino acids. It's due to a defect in the enzyme branched chain, alpha-ketoacid dehydrogenase. This causes a blockage in the conversion of alpha-keto acid into the respective acyl CoA thioester.

Symptoms of MSUD

1) LETHARGY

2) POOR APPETITE

3) WEIGHT LOSS

4) DISTINCTIVE MAPLE ODOR FROM EARWAX, SWEAT AND URINE.

5) IRREGULAR SLEEP PATTERN

SOME OTHER COMPLICATIONS

+ Seizures

+ Neurological issue

+ Poor growth

+ Vomiting

+ Coma

+ Swelling of the brain

+ Blindness

2. Phenyl ketonuria (PKU)

Most common disorder in amino acid metabolism. It is due to the deficiency of the phenylalanine hydroxylase. PKU primarily causes the accumulation of phenylalanine in tissues and blood, and results in its increased excretion in urine.

Due to disturbance in the routine metabolism phenylalanine is diverted to alternate pathways resulting in the excessive production of phenyl pyruvate, phenyl acetate, phenyl lactate, and phenyl glutamine. All these metabolites are excreted in urine in the high conc. in PKU. Phenyl acetate gives the urine a mousey odour.

Symptoms

. Seizures

. Tremors

. Hyper activities

. Skin conditions

. A musty odor of their breath, skin, or urine.

Complications

Brain damage and behabi problems, etc.

Here, you found some name of diseases that common in all 4 tables. But information is unique in each.

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