More diseases

Question 1

PKU

Answer 1

Cause: decreased phenylalanine hydrozylase or tetrahydrobiopterin cofactor
Inheritance: auto rec
Sx: mental retardation, growth retard, fair skin, eczema, musty body odor
Tx: phenylalanines down, increased tyrosine

Question 2

Alkaptonuria

Answer 2

Cause: homogentisic acid oxidase of tyrosine to fumarate
Inheritance: auto rec
Sx: dark CT and brown sclera, urine turns brown

Question 3

Albinism

Answer 3

Cause: tyrosinase, can’t make melanin from tyrosine or lack of neural crest cells
Inheritance: auto rec

Question 4

Homocystinuria

Answer 4

Cause: cystathionine synthase def, B6 loss of affinity, homocysteine methyltransferase deficiency (need B12)
Inheritance: auto rec
Sx: excess homocysteine, mental retard, osteoporosis, tall stature, kyphosis, lens subluxation, atherosclerosis

Question 5

Cystinuria

Answer 5

renal tubular amino acid transporter for cysteine, ornithine, lysince, arginine
Inheritance: auto rec
Tx: water and urinary alk and acetazolamide

Question 6

Maple Syrup Urine Disease

Answer 6

Cause: blocked branched amino acids (Ile, Leu, Val) decreased alpha ketoacid dehydrog
Inheritance: auto rec
Sx: CNS defects, mental retard, death

Question 7

Hartnup disease

Answer 7

Cause: defective neutral amino acid transporter on renal and intestinal epi cells
Inheritance: auto rec
Sx: tryptophan excretion in urine, decreased absorption from gut, pellagra

Question 8

Ornithine transcarbomoylase deficiency

Answer 8

Most common urea cycle disorder
Inheritance: x linked rec
Sx: increased orotic acid in blood, decreased BUN, symptoms of hyperammonemia

Question 9

Essential fructosuria

Answer 9

Defect: fructokinase
Inheritance: auto rec
Sx: fructose in blood and urine, benign asymptomatic condition

Question 10

Fructose intolerance

Answer 10

Defect: aldolase B
Inhertiance: auto rec
Cause: decreased phosphate, inhibition of glycogenolysis and gluconeogenesis
Sx: hypoglycemia, jaundice, cirrhosis, vomiting

Question 11

Galactokinase deficiency

Answer 11

Defect: galactokinase
Inheritance: auto rec
Sx: galactose in blood and urine, cataracts

Question 12

Classic galactosemia

Answer 12

Defect: galactose-1-phosphate-uridyltransferase
Inheritance: auto rec
Sx: failture to thrive, jaundice, hepatomegaly, cataracts, mental retardation