Metabolic disorders

Question 1

What is Guchers disease ?

Answer 1

A genetic cause of a metabolic disorder.

People with Gaucher’s disease have a genetic mutation that limits the production of glucocerebrosidase, an enzyme for breaking down fats.

This can cause harmful build up of fat around the body especially the liver and spleen.

Question 2

What can cause a metabolic disorder ?

Answer 2

• Genetics eg Gauchers disease
  -Organ dysfunction eg T1DM.
• Mitochondrial dysfunction
• Infection
• Toxicity
  -Medications
• Hormones
• Diet

Question 3

What type of fungal infection can build up and cause acute liver damage?

Answer 3

Aflatoxin B1

Question 4

Name a metabolic disorder which affects protein metabolism

Answer 4

Phenylketonuria

Question 5

What is Phenylketonuria

Answer 5

• A genetic condition that causes increased levels of phenylalanine (an amino acid) in the body.
• Autosomal recessive
  Both parents must be carriers
• Usually the amino acid Phenylalanine is obtained from the diet, which is converted into tyrosine with the help of phenylalanine hydroxylase (PAH).
• In this disease phenylaline hydroxylase does not work. The absence of PAH results in lack of tyrosine, which in turn leads to low levels of Dopa and melanin

Question 6

What are consequences of phelyketonuria ?

How do you treat it ?

Answer 6

Brain and NS damage
- Muscle tremors
-Behavioural difficulties
- epilepsy

Treatment includes a low protein diet and no aspartate and this is a source of

Question 7

What can cause hyponatremia?

Answer 7

In hyponatremia, an excess of water in the body can lead to a low concentration of sodium in the blood

Question 8

What can cause hypernatremia ?

Answer 8

In hypernatremia, a deficit of water in the body can lead to a high concentration of sodium in the blood.

Question 9

What are some symptoms of hyponatremia?

Answer 9

Question 10

What are ketones ?

Answer 10

Ketones are chemicals produced by the body when it burns stored fat.

When a person is fasting or following a low carb diet, body doesn’t have enough glucose to use for energy.

Instead, it uses your stored fat as a fuel source and converts it into ketones.

Question 11

What is the process of deriving energy from ketone bodies

Answer 11

Ketosis

Question 12

What is glycogen storage disease ?

Answer 12

It is a genetic condition in which the body has an enzyme problem and is not able to store or break down the complex sugar glycogen properly. It changes the way the body uses and stores glycogen, a form of sugar.

Question 13

What causes primary hyperlipdidemia?

Answer 13

Genetics

1- mutation

2- receptor not functioning

Question 14

What causes secondary hyperlipidemia?

Answer 14

Diseases, liver disorder, obesity.

Question 15

What condition has too little iron ?

Answer 15

iron deficiency anemia

Question 16

In what condition does the body absorb too much iron from the diet?

Answer 16

Haemochromatosis

Question 17

What disease leads to copper defciency ?

Answer 17

Menkes disease

Menkes’ disease X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency.

Question 18

In which condition is does copper accumulate ?

Answer 18

Wilsons disease

Wilson’s disease is an autosomal recessive disorder in which copper accumulates, if untreated, in liver and subsequently in brain and kidney.

Question 19

What do lysosomes do ?

Answer 19

Recycle!
Contain digestive enzymes to recycle toxins, large molecules, old or excess cell components.
Some components are stored, some are released from the cell

Question 20

What is a lysosome storage disorder ?

Answer 20

Tay Sachs disease

Tay-Sachs disease is a rare genetic disorder passed from parents to child.
It’s caused by the absence of an enzyme (hexosaminidase A) that helps break down fatty substances.
These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells.
Fatal by age 5. No cure.

Question 21

What are some mitochondrial disorders ?

Answer 21

Kearns-Sayre syndrome (KSS)
Leigh syndrome
Pearson syndrome.

Question 22

What are some common symptoms of metabolic disorders ?

Answer 22

tiredness
muscle weakness
unexpected weight gain or loss
changes in skin color
stomach pain
nausea or vomiting
reduced appetite
developmental problems in babies and infants
Serious warning signs
Hepatic encephalopathy
Liver enlargement (Hepatomegaly)
Seizures and convulsions (occasional)

Question 23

When is the heel prick test carried out ?

Answer 23

5 days after birth

Question 24

What disease does the heel prick test test for ?

Answer 24

Sickle cell anaemia
Cystic Fibrosis
Congenital Hypothyroidism
Phenylketonuria
Isovaleric Aciduria
Maple Syrup Urine Disease
Homocystenuria
Glutaric Disease Type 1