After reading yi'an post, i decided to do up a small research on Lorenzo's Oil, the make up of it, etc. and here are my findings!

Lorenzo's oil is...

- a 4:1 mixture of glycerol trioleate(C57H104O6) and glycerol trierucate*
- formulated by Augusto and Michaela Odone after their son Lorenzo was diagnosed with the disease
- competitively inhibits the enzyme that forms VLCFAs**
- very expensive


*the triglyceride forms of oleic and erucic acid
** Very Long Chain Fatty Acids

erucic acid(C22H42O2):a monounsaturated omega-9 fatty acid, denoted 22:1 ω-9,is prevalent in rapeseed, wallflower seed, and mustard seed
oleic acid (C18H34O2): a monounsaturated omega-9 fatty acid; saturated form of this acid is stearic acid

then, i shall move on to Facts on X-Linked Adrenoleukodystrophy (X-ALD):

- a peroxisomal storage disease whereby abnormal function of peroxisomes leads to the accumulation of very long-chain fatty acids (VLCFA) in tissues of the body, especially the brain and the adrenal glands.
- myelin sheath surrounding the nerves is destroyed causing neurologic problems, and the adrenal gland malfunction causes Addison's Disease**.
-reaction normally takes place in a part of the cell, which is referred to as the peroxisome
- All cells of the body, except red blood cells, have peroxisomes.Patients with X-ALD lack one of the proteins required for this degradation to take place. The protein that is missing or defective is called ALDP (X-ALD protein)


Photo of a human skin cell. The cell is stained with a dye that recognizes peroxisomes, they are indicated as the small white dots. In a normal situation, VLCFAs are degraded in peroxisomes. In X-ALD, however, the VLCFAs can not enter the peroxisomes and their concentration builds up in the cell.


X-ALD is an X-linked disorder, which means it affects only males and is transmitted by a female carrier. Such disorders are referred to as "X-linked" since the genetic abnormality involves the X-chromosome. Women have two X-chromosomes, men only one. In women, the affected X-chromosome, the one with the gene for X-ALD (Figure 2, red chromosome), does not manifest because of the presence of a normal copy of the gene (black chromosome) on the other X-chromosome. Men have one X-chromosome and one Y-chromosome. In men who have an X- chromosome for X-ALD, there is no other X- chromosome for protection, therefore symptoms may be seen in the male.




**Addison's disease:also known as chronic adrenal insufficiency, hypocortisolism or hypocorticism) is a rare endocrine disorder in which the adrenal gland produces insufficient amounts of steroid hormones (glucocorticoids and often mineralocorticoids).

-xiaoxuan(:

A Singapore Case Study


He needs to be fed milk every three hours and turned regularly in bed so he doesn't develop sores. But grand-aunt & grand-uncle who care for boy of divorced parents say:
November 07, 2006

HE can't see, he can't hear, he can't speak. And he is bedridden.

Rizan Riski, 15( now 17), has adrenoleukodystrophy (ALD), a rare genetic disorder.

Worse still, he has been living in this condition without the nurturing care of his parents.

They were divorced when he was just a year old.

His mother left the family soon after the divorce and has not come back. His father doesn't live with him, although he visits him regularly.

Instead, Rizan lives in Bukit Batok with a couple, Mr Morjid Sahmar, 67, and his wife, Madam Hatimah Eksan, 58.

Madam Hatimah is the sister of Rizan's maternal grandmother, who had died by the time Rizan's parents were divorced.

The couple treats him as one of their own grandchildren and has been looking after him since his parents' divorce, reported Berita Minggu.

That was long before he was struck by the crippling disorder at age 7 that has left him unaware of his surroundings.

ALD damages nerves in the brain and the adrenal glands, which are located just above the kidneys. His particular ALD affects only boys.

While his head turns as his eyes flit about, as if noting the goings-on in the bedroom, Rizan actually can neither see nor hear.

Although his body continues to develop into adolescence, his muscles have wasted. His arms and legs lie limp and appear bent from years of disuse.




'We have tried everything to treat Rizan, but till today there hasn't been any improvement,' said Mr Morjid, a supervisor at the Singapore Turf Club.

He said that he and his wife noticed some improvement five years ago when they engaged an Indonesian man to massage Rizan for two months.

Unfortunately, the medicine man himself fell ill when he returned to Indonesia and could not continue treating Rizan, Mr Morjid said.

Every day Mr Morjid and Madam Hatimah would bathe the boy or towel him down. They turn him over regularly so that he doesn't develop bedsores.

AIR-CONDITIONER

They have even installed an air-conditioner in the bedroom for Rizan's comfort.

Rizan is fed milk every three hours through a tube that runs through his nose.

Everyone in the household and other relatives, including Madam Hatimah's siblings, pitch in to look after Rizan.

An ambulance takes him to the hospital for his monthly checks or when he develops a fever.

But the family takes its daily care-giving tasks in stride.

'A burden? No, we don't see Rizan as a burden. It's not as if he asked to be sick,' said Madam Hatimah with a smile.

When Rizan was a healthy boy, he was very active, she said.

'He loved to jump here and there,' recalled Madam Hatimah. 'And he spoke a lot in English.'

'But when he fell ill and slowly weakened, he spent most of his time lying down. And he often cried.'

He was ready to start primary school when the family noticed changes in him.

His handwriting started deteriorating.

Madam Hatimah said: 'Then one day, he said his grand-uncle's face looked 'different'.

'And he became less stable when walking; he was always knocking into things.'

Members of the Qaryah, a mosque network which helps Muslims within a community, and the Malay Activity Executive Committee in Bukit Batok recently visited the couple.

Only 17,000 in world have disease

ALD, or adrenoleukodystrophy, is a rare disorder that afflicts some 17,000 people in the world.

Those with the disorder cannot produce an enzyme that breaks down certain types of fatty acids in the brain and the adrenal gland, Dr Stacey Tay, a consultant at the neurological division of National University Hospital's paediatrics department, told Berita Minggu.

Children with ALD have it worse than adult sufferers.

They develop it between the ages of 4 and 10, and are not expected to survive 10 years after the first signs appear.

One of the obvious signs is a change in the behaviour of the sufferer - he may keep more to himself or appear violent.

He may also suffer memory loss and his schoolwork may deteriorate. Other signs include loss of sight and hearing, memory loss, learning difficulties, weakened muscles, lethargy, difficulty in swallowing and walking, vomitting and a darkening of the skin.

In adults, the signs begin to show between the ages of 21 and 35. They include slow bodily responses, lethargy, awkward gait and paralysis in the legs.

The disease is genetic.

Hormone treatments have been known to help save the lives of ALD patients. And recent research has shown that a combination of oils known as Lorenzo's Oil has helped boys who have the disease.

taken from: http://www.sgclub.com/singapore/he_not_burden_809.html


-xiaoxuan(:

To further elaborate on Lorenzo Oil: listen carefully to the explanations on the videos and illustrations which introduce and recap on what ALD adrenoleukodystrophy is all about!



Teo Yi'an

Here are some scans done on the brain of patients diagnosed with Adrenoleukodystrophy:

A 16 year old male patient with:

Abnormal white matter signal in temperoparietooccipital region on Flair sequence. The patient has adrenal insufficiency though is asx in the CNS.

He was diagnosed with Adrenoleukodystrophy






For treatment for Adrenoleukodystrophy :

1.The Adrenal gland dysfunction is treated with steroids
2.A specific treatment for X-linked adrenoleukodystrophy is not available, but eating a diet low in (involving long chains of fatty acids) and taking special oils
3. These oils are called Lorenzo's oil, after the son of the family who discovered the treatment and is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.
4. Bone marrow transplant is also being tested as an experimental treatment.

Teo Yi'an

What is Adrenoleukodystrophy?

Adrenoleukodystrophy (ALD) is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath. People with ALD accumulate high levels of saturated, very long chain fatty acids (VLCFA) in the brain and adrenal cortex because they do not produce the enzyme that breaks down these fatty acids in the normal manner. The loss of myelin and the progressive dysfunction of the adrenal gland are the primary characteristics of ALD.

The most common is the X-linked form (X-ALD), which involves an abnormal gene located on the X-chromosome. Men are more severely affected by (X-ALD). Women have two X-chromosomes and are the carriers of the disease, whereas men only have one X-chromosome and lack the protective effect of the extra X-chromosome.

Onset of X-ALD can occur in childhood or in adulthood. The childhood form is the most severe, with onset between ages 4 and 10. The most common symptoms are usually behavioral changes such as abnormal withdrawal or aggression, poor memory, and poor school performance. Other symptoms include visual loss, learning disabilities, seizures, poorly articulated speech, difficulty swallowing, deafness, disturbances of gait and coordination, fatigue, intermittent vomiting, increased skin pigmentation, and progressive dementia.

In the milder adult-onset form, which typically begins between ages 21 and 35, symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. A mild form of ALD is occasionally seen in women who are carriers of the disorder. Symptoms include progressive stiffness, weakness or paralysis of the lower limbs, ataxia, excessive muscle tone, mild peripheral neuropathy, and urinary problems.

Benjamin Zhang

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