Glutaric Aciduria II is categorize as a genetic disorder. This means this condition is cause by gene abnormality. This is a condition that is presence during birth because it was pass on from mother to child. Some conditions like glutaric aciduria II are known to result from mutations of the human chromosome. Most conditions like this are rare and can affect one person in every several thousands or millions. According to statistics those that are affected by this inherited disorder runs from 1 to every 100,000 newborns. Because the source of glutaric aciduria II is genetic in nature there is a need to prevent the marriage of two individuals who are related to each other even if they are second cousins. If not properly diagnose this can be taught to be a different kind of disease because of the symptoms associated with it that are similar to other kinds of diseases. It is important to use MRI imaging to show its full features. Most of the time babies does not show the symptoms during the first few months of life. Even if they were subjected to newborn screening their condition will not show during this screening period.
However, much later on an infant suffering from glutaric aciduria II will develop macrocephaly. What will trigger the appearance of the symptoms is infection or conditions like gastrointestinal disturbance. The initial results will show symptoms resembling viral encephalitis or ADEM. The patients diagnose with this condition exhibit deterioration of their condition. In some instances, those that exhibit glutaric aciduria II later in their adult life will show encephalopathy and still other symptoms. It is important to have an MRI for proper imaging and to avoid triggering the condition to move from a slower to faster phase and have an effect on the person suffering from this genetic disorder. This inherited genetic disorder leads to an accumulation of glutaric acid in the brain and body fluids. This also includes its presence in the urine. This is an altogether disease different from other unrelated enzyme deficiencies. Even if there are laboratory testing made like routine blood, urine and CSF analysis for the metabolites the results are misleading. This is because excretion is intermittent even during episodes of acute decompensation hence the need for MRI imaging.
The simplest way to confirm that the person has glutaric aciduria II is to establish DNA based analysis. During this episode mutations of the GCDH gene on chromosome 19. MRI is also the choice on detecting this genetic disorder even for those that fall in type 1. Clinically speaking, those children severely affected by this condition will be affected by atrophy and necrosis. However, for those children who are not as severely affected the appearance of macrocephaly is present. The combinations of symptoms are generally seen in children suffering from glutaric aciduria II. This disease slowly progresses with episodes of deterioration brought about by infection. Even in such cases mental capabilities are preserved. There are periods when the patient will suffer from low blood sugar thus feeling weak and dizzy. However, if the condition remains untreated, death happens. Experts in this field has recommended that early post-natal diagnosis must be made before the condition slowly aggravates and cause more complications in terms of health. There is also a greater chance for survival if this genetic disorder is properly diagnose and tha the preventative measures are held in place. Because of this there is a need to screen other siblings of the affected child as well as future pregnancies should be properly screen for this disease. However, the truth is that even if these measures are taken there are a minority of cases that progress on.
For those who are in the chronic stage low protein diet with carnitine and riboflavin supplementation is a must. Here are some of the common manifestations of those suffering from glutaric aciduria II. There are other diseases associated with macroencephaly like Alexander and Canavan disease. Glutaric aciduria type I can be treated easily as compared to type II which may take some time for the patient’s system to react. There is also that progressive movement of the disease that can lead to death. By the way, this genetic disorder is also known by another name which is GA2. This condition makes it difficult for the patient’s body to break down fats and proteins. Because it cannot break these down this will make the individual lethargic and lack energy. When fats and protein cannot be process the problem is not just being obese or being force to gain weight. The tissues and blood becomes acidic which is referred to as metabolic acidosis. When an adult having glutaric aciduria II his is prone to moments of physical weakness as well as behavioral changes. Other signs can be any of these: vomiting, decrease participation in common activities that he used to as well as lack of appetite.
As if this is not bad enough, there are actually some childhood diseases that can trigger this condition further. Subjecting an individual suffering from this to stress can also serve as trigger. For those who suffer from this condition they may experience enlargement of the liver. Or even brain malformations. The most common physical manifestation is the presence of facial features that are far from normal and genital abnormalities. There is also a characteristic cloying odor that is similar to that produce by sweaty feet. These are mutations of the genes. Other names given to this genetic condition include: GA II, EMA, ETFA deficiency, electron transfer flavoprotein deficiency. Call this condition by any other name, if this goes on in this rate, the individual’s system will eventually break down thus death sets in. Even if the condition cannot be permanently treated, to preserve life the parents or relatives of the person suffering from glutaric aciduria II. They must do everything in their power to prevent the condition from progressing rapidly. There is a need for proper guidance and education both for the patient and those people who are tasked to take care of the patient’s needs.