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

Issues to be discussed while counselling a diabetic patient, Q. Issues to b...

Q. Issues to be discussed while counselling a diabetic patient ? Issues to be discussed · Counselling at Diagnosis · Diabetes is Controllable · Counselling for Day

Calorie value, THE CALORIE VALUE - The amount of heat liberated fr...

THE CALORIE VALUE - The amount of heat liberated from complete combusion of 1gm food in a bomb caloriemeter (a closed metal chamber filled with O ) is its gross calorific

What is total amount of both reactants and products decrease, In Chemical R...

In Chemical Reactions that have a large negative /\Go' a- the total amount of both reactants and products decreases b- the products are less stable than the reactants c- t

Copulation and fertilisation in hermaphrodites, Copulation and Fertilisatio...

Copulation and Fertilisation in Hermaphrodites Copulation between hermaphrodites is common. Flatworms possess a cirrus and penis that is inserted into the uterine vaginal ope

Procedures for diagnosis - isolation of etiological agent, Isolation and id...

Isolation and identification of the etiological agent: Isolation of the etiological agent is attempted in chicken embryos, cell cultures, laboratory animals, culture medi

How big of a container would you need to hold it, Assume you were given a m...

Assume you were given a mixture consisting of one molecule each of all possible sequences of a smallish protein of molecular weight 4800 daltons. If the average molecular weight of

How is the early diagnosis of genetic diseases usually done, How is the ear...

How is the early diagnosis of genetic diseases usually done? The Genetic disease may be diagnosed in the prenatal period by karyotype analysis, in case of aneuploidies, or by D

Translation in eukaryotes, Transcription in eukaryotes, a much more complex...

Transcription in eukaryotes, a much more complex procedure than in prokaryotes. In the eukaryotes, translation and transcription take place in several cellular compartments that ar

Explain the double and simple closed circulation, What is the difference am...

What is the difference among double closed circulation and simple closed circulation? Double closed circulation, or closed circulation, is that in which the blood circulates by

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