NCMA 219 Practice Exam Questions and Correct Answers
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Course
NCMA 219
Institution
NCMA 219
Newborn screening simple procedure to find out if a baby has congenital metabolic disorder that may lead to mental retardation and even death if left untreated.
Congenital Hypothyroidism condition caused by congenital absence or atrophy of the thyroid gland.
Phenylketonuria (PKU) an inborn error ...
NCMA 219 Practice Exam Questions and
Correct Answers
Newborn screening ✅simple procedure to find out if a baby has congenital metabolic
disorder that may lead to mental retardation and even death if left untreated.
Congenital Hypothyroidism ✅condition caused by congenital absence or atrophy of the
thyroid gland.
Phenylketonuria (PKU) ✅an inborn error of metabolism inherited as an autosomal
recessive trait is caused by a deficiency or absence of the enzyme needed to
metabolize the essential amino acid phenylalanine.
Galactosemia ✅a rare autosomal recessive disorder that results from various gene
mutations leading to three distinct enzymatic deficiencies.
Glucose-6-phosphate dehydrogenase deficiency ✅Most common enzyme deficiency
worldwide, causes a spectrum of disease including neonatal hyperbilirubinemia, acute
hemolysis, and chronic hemolysis.
Congenital adrenal hyperplasia ✅is an inherited disorder that affects the production of
certain hormones and causes the adrenal glands to become too big (hyperplastic).
Classic CAH ✅Present at birth, results in excess progesterone and 17-
hydroxyprogesterone which are aldosterone antagonists and cause hyperkalemia and
hyponatremia.
Salt-wasting CAH ✅more common and severe form. Too much sodium and water are
lost through urine, and the amount of potassium in the body increases, causing
dehydration and very low blood pressure.
Non-classical CAH ✅Is milder and classical CAH. Often referred to as late on set CAH,
because symptoms do not appear until later in life.
Hemoglobinopathies ✅Inherited conditions that affect the number or shape of the red
blood cells in the body.
Organic Acid Disorders ✅Are a group of inherited metabolic conditions.
Fatty Acid Oxidation Disorders ✅Are lipid metabolism disorders that are caused by a
lack or deficiency of the enzymes needed to break down fats, resulting in delayed
mental and physical development.
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