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

Describe in brief about retina, Describe in brief about retina The reti...

Describe in brief about retina The retina is a highly complex layer of nervous tissue. The photoreceptors are rods and cones for scotopic and photopic vision respectively. The

Prior to the solving of the structure of dna, Prior to the solving of the s...

Prior to the solving of the structure of DNA, Erwin Chargaff calculated the amounts of the four nucleotides (A, T,G,C) and made which of the following conclusions? A. All four

Describe the male reproductive system, Describe the Male Reproductive Syste...

Describe the Male Reproductive System? In addition to the primary sex organs, the testes, there are accessory structures that store, nourish, and activate the sperm, and conduc

What is soil horizons, What is Soil Horizons   In a profile, different...

What is Soil Horizons   In a profile, different horizons or layers are identified by certain designations assigned after comparison of the properties of the layer with those o

Explain serum lipoprotiens, Explain Serum lipoprotiens Serum lipoprot...

Explain Serum lipoprotiens Serum lipoprotiens:- spherical  or  ellipsoidal  particles containing  proteins, cholesterol esters  and  triacylglycerols, encased  within  a mon

Explain the hormonal control of blood sugar levels, The sugar carried in th...

The sugar carried in the blood is glucose; the normal value of sugar in the human bloodstream is approximately 90mg per 100 bloods. Sugar is absorbed from the small intestines and

Determine the types of suture materials, Types of suture materials The ...

Types of suture materials The suture technique and material selection should be based on a knowledge of the desired goals of the respective surgical procedures and the physical

Ecology, why would it be difficult to determine accurate values for the fou...

why would it be difficult to determine accurate values for the four variables in the Lotka-Volterra predator-prey model (a, rprey, m, b) for animals in the real world?

Explain spontaneous closure of defects in details, Explain Spontaneous Clos...

Explain Spontaneous Closure of Defects in details? Some defects have a tendency towards spontaneous closure and this can influence the timing of intervention. The defects known

When to use the term 2'' carbon, When do you use the term 2' carbon and whe...

When do you use the term 2' carbon and when do you use 2 carbons on a molecular structure? I need examples please!

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