NAME: MUSKAN SHAH
FAISAL
YEAR: 3RD SEMESTER
ENROLLMENT: /ZAB/CLS/
00868/2022
COURSE: BIOCHEMISTRY
INTERNAL
ASSESSMENT: 24 FEB
CARBOHYDRATES METABOLISM
DISEASES:
PROTEIN METABOLISM DIESEAS :
DIESEASES CAUSES SYMPTOMS TREATMENT
Lighter skin, hair and
1)Phenylketonuria change in the
eye color than other
(PKU): phenylalanine
family members, skin low protein diet.
Phenylketonuria (fen- hydroxylase (PAH)
rashes such as
ul-key-toe-NU-ree- gene.
eczema, nervous
uh), also called PKU, is system problems like
a rare inherited seizures,
disorder that causes hyperactivity,
an amino acid called unusually small head
phenylalanine to build size
up in the body.
Tyrosinemia: genetic lethargy, jaundice, a combination of a
disorder characterized fever, vomiting, low-protein diet and a
by problem in rickets, enlarged liver drug called
breaking down of and irritability. Nanterinone.
tyrosine proteins Nitisinone prevents
which is a building the buildup of toxic
block of other breakdown products.
proteins.
3)Homocystinuria lack of the enzyme eye problems, skeletal There is no cure for
(HCU): needed to metabolize abnormalities, HCU but patients are
Homocystinuria (HCU) homocysteine. intellectual disabilities given vitamin B6, B9
is a rare but (folate), and B12
potentially serious supplements for the
inherited condition. It rest of their lives.
means the body can't
process the amino
acid methionine. This
causes a harmful
build-up of
substances in the
blood and urine
4)Nonketotic extreme sleepiness There is no curative
Hyperglycinemia: (lethargy) that treatment for NKH.
Nonketotic worsens over time However, sodium
hyperglycinemia is a and can lead to coma. benzoate is used to
rare, genetic, inborn reduce
error of glycine serum glycine levels.
metabolism. Due to a
mutation in the
glycine cleavage
enzyme system, the
patient is unable to
break down glycine,
resulting in its
accumulation
throughout the body.
5)Maple Syrup Urine sweet-smelling urine The main treatment
Disorder (MSUD): and sweat. for MSUD is a low-
Maple syrup urine poor feeding or loss of protein diet with low
disease (MSUD) is a appetite. levels of the three
rare but serious weight loss. amino acids. Babies
inherited condition. It with MSUD must be
means the body on a special formula
cannot process as soon as possible.
certain amino acids Then, they'll follow
(the "building blocks" the special diet for the
of protein), causing a rest of their lives
harmful build-up of
substances in the
blood and urine.
