Metabolic disorders Flashcards
What is Guchers disease ?
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.
What can cause a metabolic disorder ?
- Genetics eg Gauchers disease
-Organ dysfunction eg T1DM. - Mitochondrial dysfunction
- Infection
- Toxicity
-Medications - Hormones
- Diet
What type of fungal infection can build up and cause acute liver damage?
Aflatoxin B1
Name a metabolic disorder which affects protein metabolism
Phenylketonuria
What is Phenylketonuria
- 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
What are consequences of phelyketonuria ?
How do you treat it ?
Brain and NS damage
- Muscle tremors
-Behavioural difficulties
- epilepsy
Treatment includes a low protein diet and no aspartate and this is a source of
What can cause hyponatremia?
In hyponatremia, an excess of water in the body can lead to a low concentration of sodium in the blood
What can cause hypernatremia ?
In hypernatremia, a deficit of water in the body can lead to a high concentration of sodium in the blood.
What are some symptoms of hyponatremia?
What are ketones ?
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.
What is the process of deriving energy from ketone bodies
Ketosis
What is glycogen storage disease ?
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.
What causes primary hyperlipdidemia?
Genetics
1- mutation
2- receptor not functioning
What causes secondary hyperlipidemia?
Diseases, liver disorder, obesity.
What condition has too little iron ?
iron deficiency anemia
In what condition does the body absorb too much iron from the diet?
Haemochromatosis
What disease leads to copper defciency ?
Menkes disease
Menkes’ disease X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency.
In which condition is does copper accumulate ?
Wilsons disease
Wilson’s disease is an autosomal recessive disorder in which copper accumulates, if untreated, in liver and subsequently in brain and kidney.
What do lysosomes do ?
Recycle!
Contain digestive enzymes to recycle toxins, large molecules, old or excess cell components.
Some components are stored, some are released from the cell
What is a lysosome storage disorder ?
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.
What are some mitochondrial disorders ?
Kearns-Sayre syndrome (KSS)
Leigh syndrome
Pearson syndrome.
What are some common symptoms of metabolic disorders ?
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)
When is the heel prick test carried out ?
5 days after birth
What disease does the heel prick test test for ?
Sickle cell anaemia
Cystic Fibrosis
Congenital Hypothyroidism
Phenylketonuria
Isovaleric Aciduria
Maple Syrup Urine Disease
Homocystenuria
Glutaric Disease Type 1
