BS

Question 1

Phenylketonuria- Inheritance

Answer 1

Autosomal recessive

- N European, Ireland

Question 2

Phenylketonuria- Sx

Answer 2

• Amino acid disorder, presents around 6 months old

- Intellectual disorder, mousy urine, eczema, seizure

Question 3

Phenylketonuria- Tx

Answer 3

• Phenylalanine restricted diet
• Eliminate high protein foods
• Diet and tx lifelong

Question 4

Hypothyroidism- Inheritance

Answer 4

85% sporadic

• 13 % autosomal recessive
• 2% transplacental passage

Question 5

Hypothyroidism- Sx

Answer 5

• Symptoms after 3 months- Cretinism
• Growth failure
• Prolonged jaundice, lethargy, poor muscle tone
• Large fontanell, distended abdomen

Question 6

Hypothyroidism- Tx

Answer 6

Normalize T4 & suppress TSH

Question 7

Sickle cell disease- Inheritance

Answer 7

• Autosomal recessive

- Structural defamation of RBCs

Question 8

Sickle cell disease- Sx

Answer 8

• Developed during infancy

Question 9

Sickle cell disease- Tx

Answer 9

• Penicillin prophylaxis for pneumococcal

- monitor blood counts

Question 10

Sickle cell disease- Tx

Answer 10

• Penicillin prophylaxis for pneumococcal

- monitor blood counts

Question 11

Galactosemia- Inheritance

Answer 11

• Recessive
• Caucasians
• Carbohydrate disorder

Question 12

Galactosemia- Sx

Answer 12

• Hepatomegaly, jaundice, hypoglycemia, failure to thrive

- Begin within 2 day of milk ingestion

Question 13

Galactosemia- Tx

Answer 13

Lactose/ galactose free diet

Question 14

Homocystinuria- Inheritance

Answer 14

• Recessive

- Sulfur amino acid disorder

Question 15

Homocystinuria- Sx

Answer 15

• Mental retardation
• Psych disoders
• Ectopia lentis
• Marfanoid body habitus w/ limited mobility

Question 16

Tyorsinemia- Inheritance

Answer 16

Recessive

- Inborn error of amino acid metabolism

Question 17

Tyorsinemia- Sx

Answer 17

Type 1: Liver failure, diathesis, rickets, renal tubular dysfunction

• Chronic: Hepatomegly, growth retardation, rickets & renal disease
• Type II: Photophobia, pain in eyes, hyperkeratosis

Question 18

Maple syrup urine disease- Inheritance

Answer 18

Recessive

- Organic aciduria

Question 19

Maple syrup urine disease- Sx

Answer 19

• 4-7 days of life
• Lethargy & poor suckling
• hyper & hypotonia
• Ketoacidosis, hyperammonemia

Question 20

Cystic fibrosis- Inheritance

Answer 20

• Recessive

- Channelopathy

Question 21

Cystic fibrosis- Sx

Answer 21

• Salt transport defect
• Pancreatic insufficiency
• Foul, oily stools
• Chronic cough, mucu

Question 22

Cystic fibrosis- Sx

Answer 22

• Salt transport defect
• Pancreatic insufficiency
• Foul, oily stools
• Chronic cough, mucus