Vocab Week 9

Question 1

Bacterial inhibition assay

Answer 1

Assay that uses bacterial colony growth as a semi quantitative indicator to measure the concentration of a product in a sample

Question 2

PKU

Answer 2

Phenylketonuria

Inherited inability to metabolize phenylalanine that causes brain and nerve damage if untreated

Question 3

Galactosemia

Answer 3

Rare genetic metabolic disorder that affects an individual’s ability to metabolize the sugar galactose properly
Galactose builds up in brain/liver/kidney and causes damage
Autosomal recessive

Question 4

Branched chain aminoacidopathy

Answer 4

A condition in which the body is unable to metabolize branched chain amino acids (ex. MSUD)

Question 5

MSUD

Answer 5

Maple Syrup Urine Disease
Accumulation of leucine, isoleucine, valine and their corresponding keto acids leading to encephalopathy and progressive neurodegeneration in untreated infants

Question 6

Homocystinuria

Answer 6

A disorder of methionine metabolism leading to abnormal accumulation of homocysteine and its metabolites in blood in urine
Causes myopia and abnormal blood clotting, brittle bones

Question 7

Hypothyroidism

Answer 7

Abnormally low activity of the thyroid gland resulting in retardation of growth and mental development in children and adults

Question 8

Biotinidase Deficiency

Answer 8

An autosomal recessive disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell; results in biotin deficiency
Cause: seizures, hypotonia, breathing/hearing/vision problems

Question 9

Sickle cell disease

Answer 9

A severe autosomal recessive form of anemia in which a mutated form of Hb distorts the red blood cells into a crescent shape at low oxygen levels

Question 10

HIV

Answer 10

Human immunodeficiency virus is a lentvirus that causes HIV and acquired immunodeficiency syndrome
HIV attacks immune system by destroying CD4+ T cells

Question 11

CF

Answer 11

Cystic fibrosis
Autosomal recessive disorder affecting the exocrine glands
It causes the production of abnormally thick mucous leading to the blockage of pancreatic ducts, intestines, and bronchi often resulting in respiratory infection

Question 12

CAH

Answer 12

Congenital adrenal hyperplasia
Collection of genetic conditions that limit your adrenal glands ability to make certain vital hormones (cortisol and aldosterone)

Question 13

MCAD

Answer 13

Medium-chain acyl-CoA dehydrogenase

Cannot metabolize medium-chain fats and if undiagnosed can lead to metabolic collapse, coma and even death

Question 14

Tandem MS/MS

Answer 14

Tandem mass spectrometry

Used in newborn screening to detect molecules such as amino acids and fatty acids

Question 15

Principles of Newborn Screening

Answer 15

1. Condition should be important health problem
2. Accepted treatment
3. Facilities for diagnosis and treatment should be available
4. Recongizable latent of early symptomatic stage
5. Suitable test or examination
6. Test acceptable to population
7. Natural history should be understood
8. Agreed policy on who to treat as patients
9. Cost of case finding should be economically balanced
10. Case finding should be a continuing process

Question 16

Principles of Speciman Collection for Newborn Screening

Answer 16

1. Specimen collected when newborn is at least 24 hrs old

2. Infant should not be discharged without collecting a specimen

Question 17

Newborn Screening

Answer 17

Public health program designed to screen infants shortly after birth for a list of conditions that are treatable but not clinically evident in the newborn period