Congenital Metabolic Disorders

Question 1

the transformation of the simple three germ layers into distinct organs

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 1

Organogenesis

Question 2

The layer nearest the amniotic cavity

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 2

ectoderm

Question 3

the inner layer, closer to the blastocyst cavity

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 3

endoderm

Question 4

the middle layer of the embryo

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 4

mesoderm

Question 5

Cells in the ________ become skin, nervous tissue, or parts of certain glands.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 5

ectoderm

Question 6

_______ cells form parts of the liver and pancreas and the linings of many organs.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 6

endoderm

Question 7

The middle layer of the embryo, the __________, forms many structures, including muscle, connective tissues, the reproductive organs, and the kidneys.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 7

mesoderm

Question 8

During week 3, a band called ___________ appears along the back of the embryo

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 8

primitive streak

Question 9

By week __, all the organs that will be present in the newborn have begun to develop.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 9

week 8

Question 10

During the _____, body proportions approach those of a newborn

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 10

fetal period

Question 11

sex organs become more distinct by week __

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 11

week 6

Question 12

by week __, it begins to suck thumb, kicks, makes fists and faces, and has the beginnings of teeth

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 12

week 12

Question 13

vocal cords will be formed by ___ weeks

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 13

18 weeks

Question 14

By the end of the ________, the woman may feel district kicks and jabs and may detect fetal hiccup.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 14

second trimester

Question 15

In the ________, fetal brain cells link into networks as organs elaborate and grow, fat fills out the skin.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 15

final trimester

Question 16

the _______ trimester is the most crucial for the baby’s development.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 16

first trimester

Question 17

The cardiovascular and digestive systems mature last. True or False

Answer 17

False - digestive and respiratory system

Question 18

The time when genetic abnormalities, toxic substances, or viruses can alter a specific structure, is __________

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 18

critical period

Question 19

Most birth defects develop during the ________ and much severe.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 19

embryonic period

Question 20

A procedure to detect if a newborn has congenital metabolic disorders that may lead to mental retardation or death.

CHOICES:
primitive streak, embryonic period, fetal period, week 12, week 14, week 10, week 8, week 6, 18 weeks, first trimester, second trimester, final trimester, mesoderm, endoderm, ectoderm, Organogenesis, critical period, Newborn screening

Answer 20

Newborn screening

Question 21

Most newborns with congenital disorders look normal at birth. True or False

Answer 21

False - metabolic disorders

Question 22

In newborn screening, the blood sample is collected within the first 24 hours of life in term newborns. True or False

Answer 22

True

Question 23

If the result is positive, it will undergo confirmatory testing. True or False

Answer 23

True

Question 24

Phenylketonuria is the most commonly diagnosed newborn screening disorder. True or False

Answer 24

False - G6PD

Question 25

G6PD is onset after being exposed to triggering factors. True or False

Answer 25

True

Question 26

a butterfly-shaped organ that produces thyroid hormones. CHOICES: Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

Answer 26

Thyroid gland

Question 27

produces hormones such as epinephrine or adrenaline, cortisol, and aldosterone. Aldosterone helps reabsorb sodium. CHOICES: Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

Answer 27

Adrenal gland

Question 28

____________________ is important for the conversion of it into Tyrosine CHOICES: Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

Answer 28

Phenylalanine

Question 29

_________ is converted to glucose for energy storage (glycogen) and energy production CHOICES: Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

Answer 29

Galactose

Question 30

it protects RBCs from damage and premature destruction CHOICES: Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

Answer 30

G6PD

Question 31

The enactment of the NBS of 2004 CHOICES: Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

Answer 31

April 6, 2004

Question 32

The signing of the implementing rules and regulation of RA 9288 CHOICES: Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

Answer 32

October 5, 2004

Question 33

The most common cause is the shortage of iodine in the diet of the mother during pregnancy CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 33

Congenital hypothyroidism

Question 34

Missing or lack of phenylalanine hydroxylase CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 34

Phenylketonuria

Question 35

Its clinical manifestation develop a few days to 2 weeks after initiation of milk feedings CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 35

Galactosemia

Question 36

Autosomal recessive and has a deficiency in 21-hydroxylase CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 36

Congenital Adrenal Hyperplasia

Question 37

Hemolytic anemia CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 37

G6PD deficiency

Question 38

Mutations in genes BCKDHA in chromosome 19, BCKDHB in chromosome 6, and DBT in chromosome 1 CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 38

Maple syrup urine disease

Question 39

The most severe type of galactosemia CHOICES: Phenylalanine, G6PD, April 6, 2004, July 11, 2004, October 5, 2004, Type 1, Type 2, Type 3, Galactose, Adrenal gland, Thyroid gland

Answer 39

Type 1

Question 40

The genes that are affected - Galactose-1-phosphate uridyltransferase (GALT), Galactokinase 1 (GALK1), UPD-Galactose-4-epimerase (GALE) CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 40

Galactosemia

Question 41

CYP21A2 gene is affected CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 41

Congenital Adrenal Hyperplasia

Question 42

Its first effects are usually seen around 6 months of age CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 42

Phenylketonuria

Question 43

Clinical Manifestations: - sweet-smelling urine - erratic behavior and moods - hallucinations - anorexia - seizures - toxic substances accumulate, triggering the chemoreceptors, making you vomit CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 43

Maple syrup urine disease

Question 44

Clinical Manifestations: - Pallor - extreme tiredness - rapid heartbeat and breathing - jaundice - splenomegaly - tea-colored urine CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 44

G6PD deficiency

Question 45

Clinical Manifestations: - poor suck - vomiting - occasionally diarrhea - jaundice - lethargy - weakness - coma - septicemia CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 45

Galactosemia

Question 46

Clinical Manifestations: - Vomiting - Hyperactivity - Seizures and hypertonia - Musty or mousy urine odor - Light hair and skin color - Seborrheic or eczematoid - rash - Mental retardation CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 46

Phenylketonuria

Question 47

Clinical Manifestations: - increased pigmentation - ambiguous genitalia in female infants - poor suck - weak cry - vomiting - excessive urination - dehydration - irritability and seizures - failure to thrive - hypotension - shock - coma CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 47

Congenital Adrenal Hyperplasia

Question 48

Early Manifestations: - Prolonged jaundice - Inactive defecation - Umbilical hernia - Hypotonia Late Manifestations: - Mental retardation - Growth retardation - Delayed skeletal maturation - Delayed dental development and tooth eruption - Delayed puberty CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 48

Congenital hypothyroidism

Question 49

1 in 2,000 to 4,000 newborns are affected CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 49

Congenital Hypothyroidism

Question 50

abnormal sex organs such as large clitoris or there is a small appearance of small penis and closed labial folds CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 50

Congenital Adrenal Hyperplasia

Question 51

Treatment includes complete avoidance of food containing high amounts of phenylalanine CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 51

Phenylketonuria

Question 52

Treatment includes a low galactose/lactose diet CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 52

Galactosemia

Question 53

sporadic CHOICES: Maple syrup urine disease, G6PD deficiency, Congenital Adrenal Hyperplasia, Congenital hypothyroidism, Phenylketonuria, Galactosemia

Answer 53

Congenital Hypothyroidism

Question 54

If there is no phenylalanine defect, there would be a production of tyrosine and later becomes melatonin. True or False

Answer 54

False - melanin

Question 55

Hormone replacement therapy and surgery is a treatment for G6PD deficiency. True or False

Answer 55

False - Congenital Adrenal Hyperplasia

Question 56

A 2-week-old infant’s digestive system cannot tolerate and break down galactose. True or False

Answer 56

True

Question 57

The first effects of PKU are usually seen around 3 months of age. True or False

Answer 57

False - 6 months

Question 58

Pentose phosphate pathway converts glucose into another sugar. True or False

Answer 58

True

Question 59

production of progesterone is blocked thus, females with CH | have male sex characteristics. True or False

Answer 59

False - CAH

Question 60

Patients with CH has a skin that is rough and dry. True or False

Answer 60

True