AdrenoleukodystrAdrenoleukodystrophyophy

By Nicolette LairdBy Nicolette Laird

Lorenzo’s OilLorenzo’s Oil

Adrenoleukodystrophy factsAdrenoleukodystrophy facts

Also known as Addison-Schilder Also known as Addison-Schilder Disease, Siemerling-Cruetz Feldt Disease, Siemerling-Cruetz Feldt Disease, ALDDisease, ALD

Rare diseaseRare disease• 1 in 20,000 people have disease1 in 20,000 people have disease

Leads to brain damage, failure of Leads to brain damage, failure of adrenal glands, deathadrenal glands, death

Part of leukodystropies groupPart of leukodystropies group

SymptomsSymptoms Damages myelin- tissue that Damages myelin- tissue that

insulates nerves and help conduct insulates nerves and help conduct impulsesimpulses

Transporter protiens are missing in Transporter protiens are missing in people with ALDpeople with ALD

Long Chain Fatty Acids build up in Long Chain Fatty Acids build up in bodybody

Can damage adrenal glands and Can damage adrenal glands and brainbrain

InheritanceInheritance X-linked diseaseX-linked disease

• Abnormal gene located on x-Abnormal gene located on x-chromosomechromosome

Inherited through autosomal Inherited through autosomal recessive inheritancerecessive inheritance• Gene carrying mutation is located on Gene carrying mutation is located on

one of the 1-22 chromosome pairs one of the 1-22 chromosome pairs

For example:For example: If a female carrier has daughters with an If a female carrier has daughters with an

unaffected man, the daughters have a 50% unaffected man, the daughters have a 50% chance of becoming a carrier.chance of becoming a carrier.

If a female carrier has sons with an unaffected If a female carrier has sons with an unaffected man, the sons have a 50% chance of developing man, the sons have a 50% chance of developing the diseasethe disease

If both parents are carriers, there is a 50% If both parents are carriers, there is a 50% chance that the children will be carriers, a 25% chance that the children will be carriers, a 25% chance that they will be normal, and a 25% chance that they will be normal, and a 25% chance that they will have the disease.chance that they will have the disease.

Three Types of ALDThree Types of ALD Childhood cerebral form Childhood cerebral form

• Most common typeMost common type Adult-onset formAdult-onset form Mild forms of ALD found in carriersMild forms of ALD found in carriers

Childhood cerebral Childhood cerebral formform

• Behavioral changesBehavioral changes Abnormal withdrawal, Abnormal withdrawal,

aggressionaggression• Poor memoryPoor memory• Poor school Poor school

performanceperformance• Visual lossVisual loss• Learning disabilitiesLearning disabilities• SeizuresSeizures• Poorly articulated Poorly articulated

speechspeech

• Difficulty swallowing Difficulty swallowing • DeafnessDeafness• Disturbances of gait Disturbances of gait

and coordinationand coordination• FatigueFatigue• Intermittent vomitingIntermittent vomiting• Increased skin Increased skin

pigmentationpigmentation• Progressive dementiaProgressive dementia

Occurs in ages 4-10Occurs in ages 4-10Death usually occurs 1-10 years after onset of Death usually occurs 1-10 years after onset of symptomssymptoms

SymptomsSymptoms

Adult Onset-Adult Onset-formform

Progressive stiffnessProgressive stiffness Weakness or paralysis of lower limbsWeakness or paralysis of lower limbs ataxiaataxia

•Occurs in ages 21-35Occurs in ages 21-35

SymptomsSymptoms

Mild forms of ALDMild forms of ALD Carriers can develop mild forms of Carriers can develop mild forms of

ALDALDSymptomsSymptoms

•Progressive stiffnessProgressive stiffness•Weakness or paralysis of lower limbsWeakness or paralysis of lower limbs•AtaxiaAtaxia•Excessive muscle toneExcessive muscle tone•Mild peripheral neuropathyMild peripheral neuropathy•Urinary problemsUrinary problems

DiagnosisDiagnosis Blood levels taken to see if there are Blood levels taken to see if there are

elevated very-long chain fatty acidselevated very-long chain fatty acids Chromosome study are taken to see Chromosome study are taken to see

if there is an ABCD1 gene mutationif there is an ABCD1 gene mutation MRI taken of brain to show damage MRI taken of brain to show damage

to white matter of brainto white matter of brain

TreatmentsTreatments Adrenal function tested periodically in patientsAdrenal function tested periodically in patients Physical therapyPhysical therapy Psycological supportPsycological support Special educationSpecial education Lorenzo’s oil (mixture of oleic acid and eruci acid)Lorenzo’s oil (mixture of oleic acid and eruci acid)

• Can reduce/delay symptoms in boys with ALDCan reduce/delay symptoms in boys with ALD Bone marrow transplantsBone marrow transplants

• Carries risk of deathCarries risk of death Oral administered docosa hexanoic acid (DHA) in Oral administered docosa hexanoic acid (DHA) in

infants with neonatal ALDinfants with neonatal ALD

ResearchResearch Gene therapy- temporarily removing Gene therapy- temporarily removing

appropriate cells from patient, appropriate cells from patient, inserting corrected genetic sequenceinserting corrected genetic sequence• Disease process will stop or reverse and Disease process will stop or reverse and

begin to make needed enzymesbegin to make needed enzymes Myelin RestorationMyelin Restoration

Lorenzo OdoneLorenzo Odone Borne May 29, 1978 to Michaela and Augusto Borne May 29, 1978 to Michaela and Augusto

OdoneOdone Was diagnosed with ALD at age 6Was diagnosed with ALD at age 6 Was unable to hear, move, see, or swallow Was unable to hear, move, see, or swallow Parents would not let him dieParents would not let him die

• Researched ALDResearched ALD• Came up with Lorenzo’s oil and helped Came up with Lorenzo’s oil and helped

save his lifesave his life Parents must attend Lorenzo 24/7Parents must attend Lorenzo 24/7 Parents stopped going to parties or doing Parents stopped going to parties or doing

anything to care for sonanything to care for son Died One day after his 30Died One day after his 30thth birthday birthday

Support groupsSupport groups http://www.aldfoundation.org/http://www.aldfoundation.org/ http://www.alds.org.au/ald.htmhttp://www.alds.org.au/ald.htm http://www.lifeknowledgepark.org.uk/http://www.lifeknowledgepark.org.uk/

projects/patientsupport/supportgroupprojects/patientsupport/supportgroup.php.php

BibliographyBibliography http://www.healthsystem.virginia.http://www.healthsystem.virginia.edu/urahealth/hub_cancer/ari.cfmedu/urahealth/hub_cancer/ari.cfm http://www.ninds.nih.gov/disorderhttp://www.ninds.nih.gov/disorders/adrenoleukodystrophy/adrenoles/adrenoleukodystrophy/adrenoleukodystrophy.htmukodystrophy.htm http://www.umm.edu/ency/article/http://www.umm.edu/ency/article/001182.htm001182.htm http://www.nlm.nih.gov/MEDLINEPhttp://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001182.htmLUS/ency/article/001182.htm http://www.stopald.ord/watisals/ashttp://www.stopald.ord/watisals/aspp http://i.dailymail.co.uk/i/pix/http://i.dailymail.co.uk/i/pix/

2008/06/01/article-0-2008/06/01/article-0-003D583400000258-003D583400000258-790_468x665.jpg790_468x665.jpg

http://www.sjsu.edu/faculty/http://www.sjsu.edu/faculty/gerstman/StatPrimer/gerstman/StatPrimer/autorecessive.jpgautorecessive.jpg

http://http://www.ulf.org/types/xALD/htmlwww.ulf.org/types/xALD/html

http://www.thisislondon.co.uk/shohttp://www.thisislondon.co.uk/showbiz/article-23489187-details/Hiswbiz/article-23489187-details/His+parents%27+battle+to+save+h+parents%27+battle+to+save+him+inspired+the+film+Lorenzo%im+inspired+the+film+Lorenzo%27s+Oil.+Now+Lorenzo+Odone%27s+Oil.+Now+Lorenzo+Odone%27s+sister+writes+movingly+of+27s+sister+writes+movingly+of+a+life+that+taught+her+the+ma+life+that+taught+her+the+meaning+of+hope.../eaning+of+hope.../article.doarticle.do

http://rarediseases.about.com/od/http://rarediseases.about.com/od/myelindisorders/p/lorenzoodone.hmyelindisorders/p/lorenzoodone.htmtm http://www.26noticias.com.ar/adjuhttp://www.26noticias.com.ar/adjuntos/imagen/85178.jpgntos/imagen/85178.jpg http://ghr.nlm.nih.gov/handbook/http://ghr.nlm.nih.gov/handbook/

illustrations/illustrations/xlinkrecessivemother.jpgxlinkrecessivemother.jpg

The EndThe End