Applied Biochemistry

Name: Moya McLeod

Date: September 13, 2013.

Deficiency in amino acids will cause many different symptoms because each amino acid
has different uses and functions.
For example, cysteine is used to reduce the amount of free radicals in the body. These
free radicals accelerate the signs of aging. Deficiency of this may lead to loss of youth
health and quality of life. Lysine, on the other hand, produces carritine that gives energy
and helps lower cholesterol (University of Maryland Medical Centre, 2013). It also forms
collagen and helps the body absorb calcium ions. Tryptophan makes niacin and serotonin.
This deficiency therefore causes mood problems and poor sleep. Serotonin is thought to
boost the quality of life (American Journal of Nutrition, 2013). We will explore other
deficiency diseases in this document.

Alkaptonuria is the first disorder that a genetic link was made. In this disorder there is a
defect in the HGD gene. The gene defect disallows the break down of tyrosine and
phenylalanine. The acid build up in the body is excreted through urine, which upon
exposure turns brownish black (University of Maryland Medical Centre, 2013).

A next disorder is Maple Syrup Diseases or Branched chain ketoaciduria. This is a

hereditary disorder where the body cannot break down leucine, isoleucine and valine in

blood. This disorder is characterized by maple- syrup smelling urine, vomiting, feeding
difficulties, lethargy and seizures among other things.

There is also a disorder called glycine encephalopathy. This disorder appears classically
in infants where a lack of glycine cleavage activity causes lethargy, feeding difficulties,
weak muscle tone and breathing problems. The genes that have defects are the AMT,
GCSH and GISC. Glycine then builds up in cerebrospinal fluid.

A more common disorder is Phenylketonuria (PKU). It is also a hereditary disease where

the enzyme phenylalanine hydroxylase cannot be synthesized hence phenylalanine cannot
be broken down. This will build up and become harmful to the central nervous system
showing mental retardation, seizures and tremors (British Journal of Nutrition).

The next disorder is Citrullinemia. This disorder is hereditary where the enzyme
arginiosuccinate synthase cannot be synthesized. Hence, arginine cannot be broken down.
This leads to a build up of ammonia and other urea cycle byproducts in the body. This
build up of ammonia and other urea byproducts is harmful to the central nervous system
of that body (National Urea Cycle Disorders Foundation, 2013). There is type 1 and type
2. Type one occurs in infants while type 2 occurs in adults causing confusion, abnormal
behaviours, seizures and coma (Droge, 2005).

Carbamoyl Phosphate synthetase I deficiency, according to the US National Library of

Medicine, 2013, is an inherited disorder that causes ammonia to accumulate in the blood.

As seen in previous disorders this affects the central nervous system. It is caused by a
defect in the CPSI gene that stops asparagine from being substituted for the threonine at
position 1405 (T1405N). It occurs in children and usually causes unusual sleepiness,
poorly regulated breathing rate or body temperature and an unwillingness to feed.
Tyrosinemia is the next disorder to be discussed. In this disorder chemicals in the
pathway of tyrosine cannot be metabolized. There are three types: I, II, and III. This
affects the construction of brain chemicals. This therefore causes decreased alertness,
depression, memory problems, lack of energy and confusion (Medscape, 2001).

Hypermethionemia is a deficiency in the amino acid methionine. It causes learning

disabilities, mental retardation, neurological problems and delays in motor skills
(Medscape, 2003).

Homocystinuria is a hereditary disease. It is characterized by a defect in metabolism of

methionine. It is a disease of the connective tissue, muscles, central nervous system and
cardiovascular system. It causes mental retardation, seizures, psychiatric disease, myopia
and glaucoma upon other things (American Journal of Nutrition, 2005).

Finally, Hartnup disease affects the absorption of tryptophan that makes niacin, melatonin
and serotonin. The gene defect associated with this is SLC6A19. This is characterized by
photosensitivity, ataxia, nystagmus, tremor, pellagralike skin eruptions, and gross amino
aciduria (Lidija Kandolf Sekulovid, 2003).