Study Set Content:
Arginemia
Arginine
affects about 1 in every 15,000 births in the United States.
Phenylketonuria (PKU)
People afflicted with PKU lack sufficient activity of the enzyme
phenylalanine hydroxylase
eople afflicted with PKU lack sufficient activity of the enzyme phenylalanine hydroxylase and are therefore unable to break down phenylalanine into
tyrosine adequately.
is a benign condition that manifests itself as a darkening of the urine.
Alkaptonuria
Alkaptonuria accumulation of (blank) acid in the body
homogentisic
Alkaptonuria Defective enzyme:
homogentisate oxidase
• inborn error of tyrosine metabolism
Albinism
Albinism Defective enzyme:
tyrosinase
is the dark pigment on the hair, eyes, and skin
Melanin (dopaquinine)
is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly.
• Maple syrup urine disease
• Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected
infants' urine.
• It is characterized by deficiency of an enzyme complex
branchedchain alpha-keto acid dehydrogenase
• It is characterized by deficiency of an enzyme complex (branchedchain alpha-keto acid dehydrogenase) that is required to break down (metabolize) the three branched-chain amino acids
(BCAAs) leucine, isoleucine and valine, in the body.
Leucine
2-amino-4-methylpentanoic acid
Isoleucine
2-amino-3-methylpentanoic acid
Valine
2-amino-3-mehylbutanoic acid
Normal adult hemoglobin has two alpha chains and two beta chains. Some people, however, have a slightly different kind of hemoglobin in their blood. This type of hemoglobin differs in the beta chains and only in one position on these two chains.
Sickle cell anemia
Nutritional deficiency of Vitamin C
Scurvy
Diagnosis
dietary history, x-rays, labs (vit C levels
