Genetic defect in pyruvate dehydrogenase, Biology

Assignment Help:

Genetic Defect in Pyruvate Dehydrogenase

A defed in any of  the protein subunits of PDH can result in decrease or complete loss of  activity. Severe cases are usually fatal. Symptoms  of deficiency include:

a)  Lactic acidosis, and

b)  Neurologic disorders.  .

Chronic alcoholics suffer  fiom  the deficiency of,thiamin,  which results  in the  accumulation of pyruvic acid. Excess pyruvate is also reduced to lactate leading to potentially fatal pyruvic and lactic acidosis.

 


Related Discussions:- Genetic defect in pyruvate dehydrogenase

Determine about the prokaryotes and eukaryote cell, Determine about the pr...

Determine about the prokaryotes and eukaryote cell The eukaryotic cells, on the other hand, have a true nucleus wherein the genetic material, DNA is enclosed within a well-def

What are the physical signs of aortic stenosis, Q. What are the Physical Si...

Q. What are the Physical Signs of aortic stenosis? Typically the carotid pulse in severe aortic stenosis is delayed (pulsus tardus). It is also decreased in amplitude (pulses p

What is the difference among white and red blood cells, What is the differe...

What is the difference among white and red blood cells? What are leukocytes? Red blood cells are erythrocytes and white blood cells are the leukocytes. Leukocytes are cells

What are the oligosaccharides and monosaccharides, Q. What are the oligosac...

Q. What are the oligosaccharides, monosaccharides and polysaccharides? Monosaccharides are simple molecules of carbohydrates that cannot be broken down into smaller molecules o

Define amino acid requirements for human, Define Amino acid requirements fo...

Define Amino acid requirements for Human? Data regarding the essential amino acid requirements of infants, children and adults are given in terms of egg protein and cow's milk

Food, FOOD Food consists of H O, minerals, vitamins carbohydrate, li...

FOOD Food consists of H O, minerals, vitamins carbohydrate, lipid & protein. A person needs 1600 cal. per day. This is BMR (Basal metabolic rate). Needed 2500 cal. per

Which part of the cell have an excess of negative charge, Given how the Na+...

Given how the Na+/K+ pump works, which part of the cell (inside or outside) will have an excess of negative charge?

Evolution, Who is the founder of theory survival of the fittest ?

Who is the founder of theory survival of the fittest ?

Explain mid-diastolic and lafe diastolic pre systolic sound, Explain Mid-di...

Explain Mid-diastolic and Lafe Diastolic (Pre Systolic) Sounds ? Mid-diastolic sounds are S3 sounds and late diastolic (pre systolic) sounds are S3 sounds. Pre systolic Pacema

What are genotypes and phenotypes, The agouti locus in mice has three allel...

The agouti locus in mice has three alleles: A is recessive and confers a black coat, A is dominant to a and confers an agouti coat, and AY is dominant to both and confers a yellow

Write Your Message!

Captcha
Free Assignment Quote

Assured A++ Grade

Get guaranteed satisfaction & time on delivery in every assignment order you paid with us! We ensure premium quality solution document along with free turntin report!

All rights reserved! Copyrights ©2019-2020 ExpertsMind IT Educational Pvt Ltd