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    I-Cell Disease: Causes and Treatment Options
    I-Cell Disease: Causes and Treatment Options
    I-Cell Disease: Causes and Treatment Options
    Ebook84 pages56 minutes

    I-Cell Disease: Causes and Treatment Options

    By John Smith

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    About this ebook

    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. If this disorder has touched your life, this book gives you the information you need to know about causes and treatment options.

    LanguageEnglish
    PublisherAndale LLC
    Release dateOct 31, 2011
    ISBN9781466166097
    I-Cell Disease: Causes and Treatment Options
    Author

    John Smith

    John was born in Norwich, Norfolk from a merchant family. He made his first dives among the wrecks on the east coast of the North Sea. For few years he worked on British oil rigs and then moved to Sharm El Sheikh in Egypt where he worked as an underwater guide. After he moved to Thailand and then to the Philippines. He now lives in Florida where he is a diver and writes novels. His articles on diving and marine biology have been published in many magazines

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      Book preview

      I-Cell Disease - John Smith

      I-Cell Disease: Causes and Treatment Options

      John Smith MA

      M Awad MD (Ed.)

      Smashwords Edition

      ****

      Copyright 2011 John Smith MA, M Awad MD

      Smashwords Edition, License Notes

      This ebook is licensed for your personal enjoyment only. This ebook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each recipient. If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy. Thank you for respecting the hard work of this author.

      Contents

      Introduction

      Diagnosis

      Symptoms and signs

      Genetics

      Treatment

      Glossary of Medical Terms

      Appendix A: Internet Resources / Further Reading

      I Cell disease – Related organizations

      Introduction

      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.

      Diagnosis

      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

      Neural tube defects (anencephaly and spina bifida) by alpha-feto protein levels.[2]

      Later on, it also can be used to detect problems such as:

      Infection

      Rh incompatibility

      Prediction of lung maturity

      Decompression of polyhydramnios

      An emerging indication for amniocentesis is in the management of preterm rupture of membranes where measurement of certain amniotic fluid inflammatory markers may be helpful. If amniotic fluid IL-6, a marker of inflammation, is elevated, the fetus is at high risk and delivery should be considered.[3]

      Risks and drawbacks

      Amniocentesis is performed between the 15th-20th week of pregnancy; performing this test early can lead to injury to the baby's limbs. Most people do the test during the 18th week of pregnancy. The term early amniocentesis is sometimes used to describe use of the process between weeks 11 and 13.[4]

      Serious complications can result in miscarriage. Other possible complications include preterm labor and delivery, respiratory

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