THE MYSTERY OF ALD Presented by Melissa Roberts

THE MYSTERY OF ALD Presented by: Melissa Roberts Ms. Weber- per. 4

WHAT IS ALD? ALD, an abbreviation for Adrenoleukodystrophy is an inherited recessive genetic disorder on X chromosone. Disables body from emulsifying(breaking down) fat molecules Causes damage to myelin sheath, insulating membrane, which surrounds nerve cells in the brain Due to inability to break down fat molecules, cells are clogged by fat molecules, and nerve cells in brain and spinal cord are harmed.

The Myelin Sheath Damaged myelin, leaves nerve fiber exposed

CAUSES OF ALD The gene ABCD 1(ATP- binding cassette subfamily D. ABCD 1 provides instructions for producing the ALDP protein is component of transport protein< located in membrane surrounding peroxisomes Peroxisomes- small sacswithin cells that produce various molecules. Carrier protein fails to work correctly, and is unable to transport fat molecules to a site where they can be broken down.

Characteristics of ALD Loss of myelin and continuing degeneration of adrenal gland (star shaped endocrine glands on the kidneys) Long chain of fatty acids (VLCFA) in adrenal cortex and brain.

Common ALD Symptoms Behavioral changes (e. g. abnormal withdrawal, poor memory, decreased learning ability are most common symptoms Other symptoms include: Fatigue, seizures, poor speech, increased skin pigmentation, deafness, difficulty swallowing, decrease in coordination, and constant vomiting.

Forms of ALD There are two basic subtypes of ALD Childhood Cerebral Form, in which nerve cells in the brain are destroyed is most devastating type. Usually occurs between ages four to eight in males. Childhood cerebral form accounts for nearly 35 -40% of ALD cases

Forms of ALD (CONT. ) Males (X_Y_) are most severely impacted since men have only one X chromosone, lacking the assistance of extra X chromosone. Due to presence of two X chromosones, females are only carriers. Adult On-Set Form: Begins between ages 31 -45 Symptoms include: weakness in lower limbs, progressive stiffness, and ataxia (lack of muscle movement coordination), eventual deterioration of brain function. Mild form of ALD, seen in female carriers, causes these symptoms as well in addition to urinary complications and excessive muscle tone.

TREATMENT There is no cure for ALD, however there are several methods available, to decrease the rate at which ALD affects an individual. Bone marrow transplants-provide long-term benefits to males, diagnosed with ALD as children, however not recommended for those with severe symptoms Oral administration of Decosahexanoic Acid may aid children with neonatal ALD(Children affected by neonatal ALD, usually experience death within ten years) “Lorenzo’s Oil”- Mixture of Oleic and erucic acid, which delays symptom appearance in boys with X_ALD. Other treatment includes: physical therapy, psychological support, and treatment with adrenal hormones.

Questions What body systems are affected by ALD? How does the damage done to the Myelin sheath impact nerve cells in the brain and spinal cord?