Mineral

Question 1

[Met/Mineral/Menke]

ATP7A-Related Copper Transport Disorders? (3)

Answer 1

1. Menkes disease
2. Occipital horn syndrome
3. ATP7A-related distal motor neuropathy

Question 2

[Met/Mineral/Menke]

Characteristics of Menkes disease? (5)
- Onset
- Presentation
- Characteristic feature

Answer 2

1. After a six- to 12-week period of good health
2. Initial presenting features: premature delivery, temperature instability, hypotonia
3. Feeding difficulties, seizure, progress to hypotonia, neurodevelopmental delays
4. Changes of the hair (short, sparse, coarse, twisted, and often lightly pigmented)
5. Subdural hemorrhage, retinal hemorrhage

Question 3

[Met/Mineral/Menke]

Treatment for Menkes disease?

Answer 3

Subcutaneous injections of copper histidinate

Question 4

[Met/Mineral/Menke]

Menkes disease

Inheritance pattern?
Genetic cause?

Answer 4

X-recessive

ATP7A

Question 5

[Met/Mineral/Menke]

Laboratory finding of Menkes disease? (2)

Answer 5

Low copper,
Low ceruloplasmin

Question 6

[Met/Mineral/Wilson]

Charactericstics of Wilson disease? (4)

Answer 6

(from age three years to older than 50 years)
1. Liver disease
recurrent jaundice, hepatitis-like illness, autoimmune-type hepatitis, fulminant hepatic failure, or chronic liver disease
2. Neurologic presentations
movement disorders (tremors, poor coordination, loss of fine-motor control, chorea, choreoathetosis) or rigid dystonia (mask-like facies, rigidity, gait disturbance, pseudobulbar involvement)
3. Psychiatric disturbance
depression, neurotic behaviors, disorganization of personality, and, occasionally, intellectual deterioration.
4. Kayser-Fleischer rings

Question 7

[Met/Mineral/Wilson]

Treatment for Wilson disease?

Answer 7

Copper chelating agents or zinc

Question 8

[Met/Mineral/Wilson]

Wilson disease

Inheritance pattern?
Genetic cause?

Answer 8

Autosomal recessive

ATP7B

Question 9

[Met/Mineral/Wilson]

Biochemical Findings of Wilson disease? (4)

Ceruloplasmin, Copper concentration, Urinary copper, Hepatic copper concentration

Answer 9

Low serum ceruloplasmin concentration
Subnormal serum copper concentration
High urinary copper
Increased hepatic copper concentration

Question 10

[Met/Mineral/Basic]

Examples of intracellular trafficking and processing defects in complex-molecule defects? (5)

Answer 10

Menkes disease (copper defect)
Wilson disease (cooper defect)
Hemochromatosis (iron defect)
a1-Antitrypsin deficiency
Congenital disorders of glycosylation