Amino Acids

Question 1

What are the non polar hydrophobic AA?

Answer 1

GAM PILV CM

Question 2

What are the aromatic AA?

Answer 2

PT’2
PHENYLALANINE
TRYPTOPHAN
TYROSINE

Question 3

What are the polar AA?

Answer 3

AGCT

ASPARGINE
GLUTAMATE
CYSTEINE
THERONINE

Question 4

What is the cause of Homocystinuria and symptoms ?

Answer 4

Defecinecy of Cystathionine Synthase
Causes increased Homocystiene
HOMOCY
Homocysteone in urine
Osteroporosis
Marfanoid habits
Occular changes
Cardiovascular effects

Question 5

Cause of cystinuria and symptoms ?

Answer 5

Defective renal AA transporter B60
Hexagonal crystals in Urine

Prevents reabsorption of COAL
CYSTEINE, Orninthine, arginine, lysine

Question 6

Cause of PKU and symptoms ?

Answer 6

Defect in PAH (PHENYLALANINE hydroxyl awe) and BH4 deficiency.

Musty odor
HYPOPIGMENT
In Europe
Seizures and neuro problems
PHE in blood

Limit PHE intake

Question 7

Alkaptonuria cause and symptoms ?

Answer 7

Deficiency in HOMOGENTISATE OXIDASE
Cannot convert TYROSINE TO FUMARATE
Blue sclera and cartilage
Urine back in sun
Arthritis

Question 8

Albinism casue and symptoms ?

Answer 8

Deficiency in tyrosine
Lack of melanin

Photosensitive and HYPOPIGMENT

Question 9

MSUD symptoms and cause ?

Answer 9

Defect in Branched chain Alpha ketoacid Dehydrogenase

Maple odour in urine
Seizure
Development delay
Elevated blood ketoacids

Restrict isoleucine leucine and valine