WHEN LYSOSOMES 'MALFUNCTION', THE BODY GETS SICK

  • Lawyers: Syariah Court must decide on custody

    The National Syarie Lawyers Association (PGSM) today said it is the Syariah Court, and not the civil court, which must decide on the custody of S Deepa and Muslim convert Izwan Abdullah's two underage children, arguing that a child is automatically considered Muslim if one parent converts to Islam. Its president Musa Awang ( right ) said that a national fatwa dialogue had ruled in June 2009 that when one parent converts to Islam, the custody will go to that parent. The Syariah Court had …

  • In death, Karpal to revisit milestones of his life
    In death, Karpal to revisit milestones of his life

    GEORGE TOWN, April 18 — Mourners will retrace Karpal Singh’s footsteps through the state capital for his final send-off this Sunday, walking the same path taken by the “Tiger of Jelutong” during... …

  • S'gor assembly gets food poisoning, caterer axed

    The Selangor speaker and her deputy along with many others at the Selangor state assembly were hit by food poisoning yesterday. Speaker Hannah Yeoh said the services  of the caterer responsible has  been terminated promptly after the many complaints received. "We are satisfied with the findings of the investigation prompted by complaints from members of the media, the deputy speaker (Nik Nazmi Nik Ahmad. "I myself suffered food poisoning," said Yeoh when met at the session today. …

  • After Sarawak ejection, PKR’s Tian Chua now booted from Sabah
    After Sarawak ejection, PKR’s Tian Chua now booted from Sabah

    KUALA LUMPUR, April 18 — PKR’s Chua Tian Chang was deported from the Kota Kinabalu airport in Sabah today, less than a month after the opposition lawmaker was denied entry into Sarawak. Chua,... …

  • Democracy a tall hurdle to Islamic state, says Isma leader
    Democracy a tall hurdle to Islamic state, says Isma leader

    PETALING JAYA, April 18 — A democracy in which all citizens participate equally is a major obstacle towards making Malaysia an Islamic state, Ikatan Muslimin Malaysia (Isma) deputy president... …

  • The tiger will roar beyond the grave

    The tiger sleeps. From kampungs, estates to the cities, be it the young or old, everyone knew Karpal Singh.                 It was former MIC president S Samy Vellu (centre) who first referred to Karpal as a tiger, calling the lawyer-turned-politician a "tiger of the court" while dubbing himself a "lion". In response, Karpal said that Samy Vellu could be the lion and he the tiger, but then was quick to point out that there were no lions in Malaysia. It was following this exchange that …

A lysosome is an organelle found in the cytoplasm of most cells. As

lysosomes are subcellular organelles responsible for the physiologic turnover of

cell constituents, their malfunction result in Lysosomal Storage Disease

(LSD).

This is the first of two features on LSD.

KUALA LUMPUR, Feb 18 (Bernama) -- The Lysosomal Storage Disease, known as

LSD, results when the lysosome, which is a specific organelle in the body''s

cells, malfunctions.

LSD is characterised by the accumulation of undigested or partially digested

macromolecules, which ultimately results in cellular dysfunction including

the nervous system, connective tissue and others.

To the layperson, terms such as Metachromatic Leukodystrophies, Multiple

Sulfatase Deficiency and Galactosialidosis, are foreign.

Some may say that these terms make no sense, and since they are too

difficult to comprehend, these terms continue to be ignored.

However, these rather unfamiliar words have proven to be grim to the

unfortunate few, as they refer to a rare group of genetic disorders

that fall under the category of LSDs.

According to the medical fraternity, over 50 LSDs have been described.

Some types of LSD include the Fabry, Gaucher, MPS and Pompe diseases.

DIFFICULT TO DIAGNOSE

According to Kuala Lumpur Hospital''s Dr L.H. Ngu, a specialist in LSD,

the disease is caused by an inherited genetic problem and is very rare.

"It causes a malfunction of the enzymes in lysosomes, which should function

to rid the cells of their waste," he said.

The clinical geneticist and metabolic pediatrician said wastes collected in

the lysosomes of the cells will disrupt the cell functions.

"When this disease manifests, it will result in developmental delay,

movement disorders, seizures, dementia, deafness and blindness, among other

signs," he said.

Dr Ngu also said it takes longer for an adult to show signs of LSD

but they are not spared the severity of the disorder.

NO EASY TASK

The task of diagnosing the LSD by doctors and geneticists is not easy, said

the LSD specialist.

"The lysosome is an organelle in the cell and it helps to process the waste.

There are more than 40 types of enzymes in a human body needed to break down

different types of molecules.

"The LSD is caused by the deficiency of a particular lysosome enzyme

activity," he explained.

As there are some 45 types of inter-related diseases make up

the family of LSD diseases, Dr Ngu said, diagnosing LSD is a difficult task

because the early symptoms are very similar to more common diseases.

He said the problem grows bigger when genetic mutation causes an

inability to synthesize thus lysosome accumulates and the cells simultaneously

accumulate as well.

The disease sometimes progresses slowly and outward signs are easily

overlooked.

"And because of all that, crucial treatment time is lost," Dr Lock

explained.

BEFORE BIRTH

LSD effects can begin even before birth and it can be so severe that young

patients normally do not survive. Some succumb at a very early age.

In some cases, it can be milder and develop over time, according to the

specialist.

Those born with this inherited disease and survive it into their

early years, will face a variety of complications that will be a continuous

struggle for both their families and themselves.

"Patients have to endure lengthy hospital stays and varying treatment

courses. Sadly, there is no known cure available for LSD, and by large,

treatment is symptomatic instead of dealing with the underlying enzyme problem,

which is often treated as a secondary measure," he explained further.

The patient eventually faces digression, losing the ability to walk

and to talk.

VIRAL ILLNESS

"A viral illness may follow, or even a minor head injury may accelerate it.

"The face of a LSD patient gets coarse eventually. They look older than they

are supposed to, their eyes become cloudy and a small rash breaks out at the

umbilical area. Some contract the Pompe disease.

"This is when their heart gets enlarged and they develop a floppy body

structure," Dr Ngu explained.

-- BERNAMA

HBH ZUL INE RON

Follow @YahooMalaysia on LINE for daily news updates.

Comments on Yahoo pages are subject to our link to Comments Guidelines. You are responsible for any content that you post. Yahoo is not responsible or liable in any way for comments posted by its users. Yahoo does not in any way endorse or support comments made by its users.

  • Langkawi BN MP pokes fun at Karpal Singh’s remains The Malaysian Insider
    Langkawi BN MP pokes fun at Karpal Singh’s remains

    As the nation mourns the passing of a great politician, BN MP Datuk Nawawi Ahmad insulted the late Karpal Singh by posting a picture of the veteran politician's blood-smeared face as he lay in his Toyota Alphard following a tragic accident this morning. Along with the Facebook picture was a newspaper cutting on Karpal being opposed to the... …

  • Karpal makes last journey home to Penang The Malaysian Insider
    Karpal makes last journey home to Penang

    Amid tears of sorrow, a coffin bearing Karpal Singh's body was loaded onto a van for his final journey back to Penang today. The 73-year-old, popularly known as the "Tiger of Jelutong", died early this morning after the Toyota Alphard he was in collided with a five-tonne Mitsubishi Canter. Karpal's body had been brought to Raja Permaisuri... …

  • My dad was in KL to see me, says Gobind The Malaysian Insider
    My dad was in KL to see me, says Gobind

    Bukit Gelugor MP Karpal Singh, who died in an accident early this morning, was in Kuala Lumpur to visit his son Gobind Singh Deo who was ill. A distraught Gobind said he was informed of the accident at 2.15am today, and he and his wife rushed to the scene where he saw his father's mangled car and his father's body. "My brother Ramkarpal was... …