Gaucher Disease

passed down from parent to child

GBA gene (glucosylceramidase beta)

50% of people diagnosed are under the age of 20

verified by a beta-glucosidase leukocyte (BGL) test

lack of phenotypes

Transmission from carrier parents

1 in 4 (25 percent) chance to have a baby born with Gaucher disease

1 in 2 (50 percent) chance to have a child who is a carrier like themselves

1 in 4 (25 percent) chance to have a child who is neither affected nor a carrier

it is an autosomal recessive inherited disorder that affects the metabolism

increased risk of developing Parkinson disease and related disorders

Population Affected

affects approximately 1 in 100,000 persons

Ashkenazi Jewish population 1 in 500 persons

Treatment

enzyme replacement therapy

glucocerebrosidase enzyme given intravenously

Types of Gacuher Disease

Type 1 is called non-neuronopathic

affects 90% of people

It is treatable.

don't have enough platelets in their blood

bruise easily and feel tired often

Blood leaks out of vessels and appears as dark matter under the skin.

Small blood vessels (cappilaries) are broken

Legs

Blow/Injusry

Arms

Blow/Injusry

Skin becomes thinner

protective fatty layer that helps cushion blood vessels from injury gets thinner

Corticosteroids thin the skin, making it easier to bruise

Some dietary supplements, such as ginkgo biloba, have a blood-thinning effect.

Women more prone than men

history of excessive or prolonged bleeding

Minor cut

Surgical procedure

Subtopic

enlarged liver or spleen

possibly kidney, lung, and skeletal problems

How platelets function

Proteins in blood

lack of primary central nervous system involvement

Type 2 is called acute neuronopathic

affects newborns and infants

It is fatal

abnormal accumulation of glucocerebroside in the brain

primary central nervous system involvement

neurological impacts

Type 3 is chronic neuronopathic

skeletal problems

blood disorders

breathing problems

liver and spleen enlargement

primary central nervous system involvement,

neurological impacts

seizures

eye movement disorders

It is treatable

Monogenetic Inheritance Disorders

Iron overload (hemochromatosis)

Hemochromatosis

body stores too much iron

Help hemoglobin in blood cells carry oxygen throughout your body.

Make red blood cells

Damage to heart

Arrythmia (irregular heartbeat)

Heart failure

Damage to liver

Cirrhosis (scarring)

Enlarged liver

Liver cancer

Liver failure

damage to pancreas

Arthritis (joint damage)

Diabetes

Problems with the spleen, adrenal glands, pituitary gland, gallbladder or thyroid

Grey Skin

Reproductive System issues

Erectile dysfunction

early menopause in women

Sickle cell anemia

Shape of red blood cells

Shaped like sickles

Sticky and stick to walls of veins

Painful

No Cure

Red blood cells die in 10 days instead of 120

Intense pain for days

Swelling of hands and feet

Damage Spleen

Infections

Pneumonia

Delayed puberty

Vision Problems

Marfan syndrome

Connective tissue

Heart

Eyes

Blood Vessels

Skeleton

Huntington's disease

degeneration of nerve cells in the brain

Movement Disorder

Cognitive Disorder

Psychiatric Disorder

Cystic fibrosis

Damage to Lungs

Damage to digestive system

Affects cells that makes mucus

Affects cells that makes sweat

Affects cells that make digestive juices

Secretions are thick and clog up the body

Treatment but no cure

Life expectancy only into their 50's

multifactorial inheritance disorders

Diabetes

Cancer

Alzheimer's disease

Cancer

Gene Mutation

glucocerebrosidase

glucocerebroside fat can't be broken down

Fat Accumulates in:

Liver

Spleen

Bone Marrow

Pain

Fatigue

jaundice

Bone damage

anemia

death

genotypes (N370S) encodes an enzyme that has sufficient residual enzyme activity to ensure that significant neurologic disease does not occur

two copies of the N370S mutation of the GBA gene

affects chromosome 1q21