https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc Mucolipidoses en-us 2020-12-02 14:45:39 UTC 2020-12-02 15:51:16 UTC hello@padlet.com mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980033971 Mucolipidoses are group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells.]]> 2020-12-02 15:01:39 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980033971 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980056760 2020-12-02 15:05:44 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980056760 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980080998 Diagnosis of ML I, II, and III can be confirmed though a blood test that measures enzyme activity in the patient's white blood cells. Lower than normal activity levels indicate specific enzyme deficiencies.]]> 2020-12-02 15:10:29 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980080998 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980087289 Another way of testing is through skin biopsy. A small sample of skin is taken from the patient and grown in a cell culture. The activity of a particular enzyme in the cultured skin cells is then measured and the conclusion is drawn.]]> 2020-12-02 15:11:46 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980087289 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980099377 The mucolipidoses are inherited through a recessive gene, meaning they occur only when a child inherits two copies of the defective gene, one from each parent. When that requirement is met, each of their children faces a one in four chance of developing one of the MLs. Additionally, each child faces a one in two chance of inheriting only one copy of the defective gene. Individuals possessing only one defective gene do not develop the disease but they can pass it on to their children. ]]> 2020-12-02 15:14:14 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980099377 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980126385 The are four types of mucolipidoses: I, II, III, and IV. ]]> 2020-12-02 15:19:25 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980126385 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980134058 Symptoms are either present at birth or develop within early in life. Many infants with ML I experience excessive swelling throughout the body at birth. Usually born with coarse facial features, such as a flat nasal bridge, puffy eyelids, enlargement of the gums, and excessive tongue size. Many are also born with skeletal malformations such as hip dislocation. Infants often develop sudden involuntary muscle contractions and have red spots in their eyes (called cherry-red macules). They are often unable to coordinate voluntary movement (called ataxia). Tremors, impaired vision, and seizures also occur in children with ML I. Abnormal enlargement of the liver and spleen and extreme abdominal swelling, impaired intellect initially or that gets progressively severe. Many suffer from failure to thrive and from recurring respiratory infections. Most individuals die before 1 year.]]> 2020-12-02 15:20:55 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980134058 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980134670 Being a particularly severe form of ML, physical signs, such as abnormal skeletal development, coarse facial features, and restricted joint movement, may be present at birth. Individuals (typically children) with ML II usually have enlargement of certain organs (such as the liver or spleen, and sometimes even the heart valves). They typically fail to grow and develop in the first months of life, have development delays in their motor skills and cognitive skills, corneal clouding, and recurrent respiratory tract infections. Individuals with ML II generally die before their seventh year of life.]]> 2020-12-02 15:21:03 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980134670 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980134851 Generally of normal intelligence or only possessing mild cognitive problems. These individuals typically have skeletal abnormalities, coarse facial features, short stature, and corneal clouding. Some individuals survive until their fourth or fifth decade of life.]]> 2020-12-02 15:21:05 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980134851 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980135097 Most patients with ML IV have a delay of movement development and coordination, clouding of the cornea of the eye, and severely reduced vision. Most have an unsteady gait and do not walk independently. Patients are occasionally misdiagnosed as having cerebral palsy. Speech is usually severely impaired. However, some are more mildly affected and can walk and have better speech.  ]]> 2020-12-02 15:21:08 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980135097 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980271341 2020-12-02 15:48:25 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980271341 mcternancolm1 https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980272524 2020-12-02 15:48:40 UTC https://padlet.com/mcternancolm1/lrolwyp7zh5udgdc/wish/980272524