Clinical manifestations of maple syrup urine disease, Biology

Assignment Help:

Q. Clinical manifestations of maple syrup urine disease?

Clinical manifestations are expressed upon protein loading or with febrile illness. In most severely impaired enzyme deficiency, seizures, apnea (brief pause in breathing) and death may occur. In untreated patients with classic MSUD who survive beyond early infancy, there is retardation of physical and mental development. Early diagnosi3 and therapy lead to normal growth and development.

Most infants with classic MSUD have greater than 8 mg/dl leucine at 72 hours of age. Diagnosis is confirmed using ion exchange chromatography to quantify plasma isoleucine, leucine, valine and alloisoleucine, and urinary branched chain a keto acids.


Related Discussions:- Clinical manifestations of maple syrup urine disease

What are the male and the female gonads in humans, Q. What are gonads? What...

Q. What are gonads? What are the male and the female gonads in humans? Gonads are the organs that produce gametes they contain the germ cells that undergo division and generate

What are nerve function, The major function of the nerve cells of the body ...

The major function of the nerve cells of the body is contact. This is accomplished by passing electrical and chemical messages from neuron to neuron or from neuron to one other goa

Spleen, SPLEEN Largest lymph gland, also with myeloid tissue is an i...

SPLEEN Largest lymph gland, also with myeloid tissue is an important specialized reticuloendothelial organ in vertebrates, as the site of erythropoiesis. Splenic tissue i

Draw on knowledge of electron distribution, While waiting at an airport , n...

While waiting at an airport , nail Campbell once overheard this claim, its paranoid and ignorant to worry about industry or agriculture contaminating the environment with chemical

Explain differential media - culture media, Explain Differential Media - Cu...

Explain Differential Media - Culture Media? It allows differentiation among morphologically and biochemically related group of organisms. It contains certain ingredients which

Causes of solid wastes, The main causes for the rapid growth in the quantit...

The main causes for the rapid growth in the quantity of solid wastes are- (i)     Over population: the ever increasing population is increasing all types of pollution; same is t

Coevolution of prey-predators, Predation is a process by which one organism...

Predation is a process by which one organism (predator) eats another organism (prey). If the prey population is abundant, the predator population also becomes abundant. If the pred

What is polypropylenes, Q. What is Polypropylenes? Polypropylenes (PP) ...

Q. What is Polypropylenes? Polypropylenes (PP) (cast PP, Bi-axially oriented PP (BOPP), pearlized PP): Polypropylene is often termed a breathable film. This film is not a

Vegetative development - development, Vegetative Development - Development ...

Vegetative Development - Development The process of growth and differentiation of cells into organs and organisms is often termed development. For example, the development of

Give the introduction to evaluation of patient clinical, Give the introduct...

Give the introduction to evaluation of patient clinical examination ? A careful physical examinations is a very important for assessing the cardiovascular system and after prov

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