I-Cell Disease: Causes and Treatment Options
John Smith MA
M Awad MD (Ed.)
Smashwords Edition
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Copyright 2011 John Smith MA, M Awad MD
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Contents
Appendix A: Internet Resources / Further Reading
I Cell disease – Related organizations
I-cell disease, or Inclusion-cell disease, is an extremely rare inherited metabolic disorder characterized by coarse facial features, skeletal afflictions and developmental delays. I-cell disease is also known as: GNPTA, Inclusion Cell Disease, Leroy Disease, ML Disorder, Type II, ML II, Mucolipidosis II, or N-Acetylglucosamine-1-Phosphotransferase Deficiency.
The manifestations of I-cell disease are like -- but more significant --than those of Hurler syndrome. The symptoms connected with this disorder usually become clear during youth and may include multiple anomalies of the skull and face and delays in growth. Some of the physical features linked with I-cell disease can be seen at birth while other features may become clear between six to ten months.
I-cell disease can affect both males and females equally. Brothers of affected children have a one in four likelihood of having this disorder. Roughly, the incidence of the disease is 1 in 640,000 live births.
I-cell disease can be diagnosed before birth (prenatally) using amniocentesis or chorionic villus sampling. Amniocentesis is a process in which liquid that surrounds the fetus (amniotic fluid) is sampled and cells from the liquid are then tested in the lab. Chorionic villus sampling (CVS) is a pre-natal diagnosing process in which a tiny sample of tissue is removed from the placenta and examined in the lab. UDP-N-acetylglucosamine-1-phosphotransferase enzyme activity can be measured in white blood cells or in cultured fibroblasts. Elevated lysosomal enzymes are found in the blood serum, which are reduced in cultured fibroblasts.
Amniocentesis
Amniocentesis (also referred to as amniotic fluid test or AFT) is a medical procedure used in prenatal diagnosis of chromosomal abnormalities and fetal infections,[1] in which a small amount of amniotic fluid, which contains fetal tissues, is extracted from the amnion or amniotic sac surrounding a developing fetus, and the fetal DNA is examined for genetic abnormalities.
Procedure
Before the start of the procedure, a local anesthetic can be given to the mother in order to relieve the pain felt during the insertion of the needle used to withdraw the fluid. After the local is in effect, a needle is usually inserted through the mother's abdominal wall, then through the wall of the uterus, and finally into the amniotic sac. With the aid of ultrasound-guidance, a physician punctures the sac in an area away from the fetus and extracts approximately 20 ml of amniotic fluid. After the amniotic fluid is extracted, the fetal cells are separated from the sample. The cells are grown in a culture medium, then fixed and stained. Under a microscope the chromosomes are examined for abnormalities. The most common abnormalities detected are Down syndrome(trisomy 21), Edwards syndrome (trisomy 18), and Turner syndrome(monosomy X). In regard to the fetus, the puncture heals and the amniotic sac replenishes the liquid over the next 24–48 hours.
Indications and results
Early in pregnancy, used for diagnosis of chromosomal and other fetal problems such as:
Down syndrome (trisomy 21)
Trisomy 13
Trisomy 18
Fragile X
Rare, inherited metabolic disorders