Metabolic or Endocrine Disorders

Question 1

True about common characteristics of genetic orders of metabolism EXCEPT:

A. The affected infant is always significantly ill at birth
B. The nature of the mutation that causes the dysfunction varies from family to family.
C. The earlier the appearance of clinical symptom, the more severe the disease
D. The majority of conditions are inherited as autosomal recessive traits

Answer 1

A

Question 2

1st step in a neonate with poor feeding, vomiting (not due to GI anomalies), lethargy, convulsion, coma, not responsive to IV glucose, calcium or vit B6 in whom metabolic disorder is suspected, next best step is:

a. Determine CO2
b. Determine blood pH
c. Obtain plasma amonia
d. Determine bicarbonate level

Answer 2

C

Question 3

Metabolic disorder with high plasma ammonia, and normal anion gap

A. Organic Acedemias
B. Urea Cycle Defects
C. Aminoacidopathies
D. Galactosemia

Answer 3

B

Question 4

Metabolic disorder with high/normal plasma ammonia, high/normal anion gap, with acidosis

A. Organic Acedemias
B. Urea Cycle Defects
C. Aminoacidopathies
D. Galactosemia

Answer 4

A

Question 5

Metabolic disorder with normal plasma ammonia, normal anion gap.

A. Organic Acedemias
B. Urea Cycle Defects
C. Aminoacidopathies
D. Galactosemia

Answer 5

C and D

Question 6

Inborn error of metabolism with urine odor:

sweaty feet

Answer 6

Glutaric acidemia type II

Isovaleric acidemia

Question 7

Inborn error of metabolism with urine odor:

Swimming pool

Answer 7

Hawkinsuria

Question 8

Inborn error of metabolism with urine odor:

cat urine

Answer 8

3-hydroxy-3-methylglutaric aciduria

Question 9

Inborn error of metabolism with urine odor:

maple syrup

Answer 9

maple syrup urine disease

Question 10

Inborn error of metabolism with urine odor:

boiled cabbage

Answer 10

Hypermethioninemia

Tyrosinemia

Question 11

Inborn error of metabolism with urine odor:

hops-like

Answer 11

Oasthouse urine disease

Question 12

Inborn error of metabolism with urine odor:

Mousy

Answer 12

PKU

Question 13

Inborn error of metabolism with urine odor:

Rotting fish

Answer 13

Trimethylaminuria

Question 14

Rancid Butter

Answer 14

Tyrosinemia

Question 15

MSUD confirmatory test

Answer 15

plasma leucine, isoleucine, valine elevation

Question 16

Neuroimaging results of MSUD

Answer 16

cerebral edema of cerebellum, dorsal brainstem, cerebral peduncle, internal capsule

Question 17

Enzyme lacking in PKU

Answer 17

phenylalanine hydroxylase

Question 18

Confirmatory diagnosis for PKU

Answer 18

plasma phenylalanine elevated

Question 19

Enzyme lacking in galactosemia

Answer 19

glucokinase
uridyltransferase
uridine diphosphate galactose-4-epimerase deficiency galactosemia

Question 20

Test to establish diagnosis of galactosemia

Answer 20

enzyme activity on erythrocytes via non reactive UV and high performance liquid chromatography

Question 21

Diagnosis of G6PD deficiency depend on

Answer 21

direct or indirect measurement of enzyme activity in RBCs

Question 22

Most common cause of congenital hypothyroidism

Answer 22

Dysgenesis