Inborn Errors of Metabolism

Question 1

Alkaptonuria

Answer 1

• deficiency of homogentisate 1,2-dioxygenase
• accumulation of homogentisic acid
• early onset arthritis, black pigmentation of skin
• treated with NTBC/Nitisinone: inhibits upstream enzyme preventing formation of homogentisic acid

Question 2

Phenylketonuria (PKU)

Answer 2

• deficiency of phenylalanine hydroxylase
• massive accumulation of phenylalanine
• leads to ID
• can be easily treated with low phenylalanine diet and kuvan supplement after newborn screening

Question 3

Maternal PKU

Answer 3

• mother with PKU had poor phenylalanine control during pregnancy
• symptoms are microcephaly, congenital heart defects ,ID, low birth weight

Question 4

Warfarin

Answer 4

• anticoagulant therapy
• too much will lead to bleeding, too little will not get rid of clotting
• look at genetics to see what dose to give

Question 5

Philadelphia Chromosome

Answer 5

• chromosome 9 and chromosome 22 combine so certain gene gets split up
• treated with Gleevac–>increases survival