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(Photograph by Mark Seliger for TIME)
Wednesday, Sep 19, 2012
SINGAPORE – 4-year-old Zecia Chew suffers from a rare condition that has caused her tummy to bloat and look like a pregnant woman’s.
She suffers from Gaucher’s Disease – a genetic condition where a fatty substance called lipids accumulates in cells and certain organs.
The disease is characterised by the enlargement of the liver and spleen, fat hoarding and a distended abdomen.
Her limbs are also painfully thin, as they have difficulty absorbing nutrients. Being extremely weak, Zecia is constantly in danger of falling and hurting herself.
And if she falls and hurts herself, her bruises take weeks to heal, as her blood platelet levels are extremely low due to the disease.
It is believed that there are only two known cases of Gaucher’s Disease in Singapore, Chinese daily Shin Min reported.
As both of Zecia’s parents have no history of the illness, it came as a great shock to them when their daughter was diagnosed with the disease.
Unluckily, medical tests revealed that both of them are carriers of the gene. If so, a child has a 25 per cent chance of inheriting the illness.
The first sign that there was something wrong with little Zecia was innocuous enough, her parents Sharon and Avan said.
They noticed that her belly was growing faster than the rest of her tiny frame. Yet she didn’t seem to be eating that much food. Worried, they brought her to see a number of medical practitioners, many of whom said she had “poor digestion”, “too much wind” or “a weak stomach”.
When Zecia finally mastered walking, she did so with huge difficulties, often tripping and falling. Finally in October 2011, Zecia’s bloated tummy, poor sense of balance, frequent complaints of tiredness and many other seemingly unrelated symptoms became too much for her parents to dismiss as “normal” for a child her age.
On October 18, Sharon and Avan received the devastating news – Zecia was suffering from a disease so rare, they had never even heard of it.
Gaucher’s disease ( /ɡoʊˈʃeɪz/) is a genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher’s disease is the most common of the lysosomal storage diseases.:536 It is a form of sphingolipidosis (a subgroup of lysosomal storage diseases), as it involves dysfunctional metabolism of sphingolipids. The disorder is characterized by bruising, fatigue, anemia, low blood platelets, and enlargement of the liver and spleen. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid glucosylceramide. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages (mononuclear leukocytes). Glucosylceramidase can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.
The Cloning of Enzymes
Enzymes that modify nucleic acids provide the foundation for many molecular biology techniques. These enzymes are used to synthesize, degrade, join or remove portions of nucleic acids in a controlled and generally deﬁned manner. Speciﬁc features of the in vivo functions of these enzymes have been exploited in vitro to provide many of the protocols currently used in nucleic acid manipulations.