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Showing posts with the label Genetic disorder

Methylmalonic acidemia (MMA)| Fatal Genetic Disorder | Autosomal Recessive Disorder

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  Methylmalonic acidemia or MMA is generally a rare and fatal genetic disorder which affects metabolism and body systems that usually affects about 1 in 100,000 infants. Generally, these defects are caused by a genetic defect which prevents the body from processing proteins from foods you eat. People who have this health condition are unable to produce an enzyme which is needed to break down. This health condition causes a buildup of acids and other toxic substances in the blood, urine and other cells which includes brain cells other than creating proteins from your foods. Usually, this disease will mostly be diagnosed within a few months of life. But, how this toxic substance buildup will affect the body and it can vary drastically from one person to another person. For some people, this health condition can cause severe long term problems like seizures, strokes, growth problems, developmental delays and frequent severe illness. This metabolic defect leads to buildup of methylmalo...

Achondroplasia | Genetic disorder | Bone Growth Disorder

  Achondroplasia is generally described as a bone development disorder which results in dwarfism because of genetic or gene mutation in the arms and legs of your body. Achondroplasia comes under the form of short stature which means adults less than 4-ft. 10-in. in height. But almost all children who are affected with achondroplasia are able to live full and healthy lives after the diagnosis of disease. In the early stages of fetal development, most of the fetal skeleton is mainly made up of cartilage tissue, which eventually turns into bone. Achondroplasia happens when the cartilage tissues do not develop complete bone development of your arms and legs. This genetic disorder leads to short-limb dwarfism with the upper parts of arms and legs being shorter than the lower portions of those limbs which means rhizomelic shortening. Causes Generally, achondroplasia disorder is typically caused by a mutated gene which is in the receiver that converts cartilage tissues to bone development...