METHYLMALONIC ACIDEMIA

Metabolic disorder usually indicated by the weight of the unremitting increase. In a metabolic disorder called Methylmalonic Acidemia (MMA), breastfeeding and regular milk formula had not consumed baby
Weight babies are not proportionate with a straight health. However, if I never experienced a small increase in body weight, parents need to be vigilant. Especially if accompanied by other symptoms such as frequent dimuntahkan always, floppy body is weak, and developmental milestones are not met. So I can grow as a result failed to subject his body metabolism.
To determine what factors cause disturbances to the growth of children, requires more observation. In addition to the accuracy of diagnosis, possible causes are very many. One may methylmalonic acidemia (MMA).
"Disorders of growth is one of the symptoms of MMA," he said. Naomi Esthernita, Sp.A. What is the MMA? "MMA is a metabolic aberration congenital (inborn errors of metabolism). That is especially the constraints of protein metabolism essential amino acid valine and isoleucine to become new products that required the body," information specialist doctors child from the Siloam Gleneagles Hospital, Lippo Cikarang.
With these obstacles, means that the baby's body can not accept Feed breastfeeding and regular milk formula. Can be, how the weight of life if the baby should receive, which could result in the Feed bad for the body's metabolism. This occurs because the enzyme acid change metil malonat the metylmalonyl COA mutase too little or not produced. Alternatively, the factors needed to support the enzyme can work, namely vitamin B12, is not adequate.
Beware of the symptoms
Not all the interference that occurs in the body easily visible. Sometimes the fact that much is hidden in the body, to menelisiknya also need to review carefully the laboratory and sophisticated equipment, such as occurred in the MMA. "Harassment is very difficult to be detected. Moreover, the results of the laboratory to get an accurate about the disruption this can not be done in Indonesia," said dr. Dwi Widodo Putro, Sp.A., from the Siloam Gleneagles Hospital, Lippo Karawaci, which is found in a separate opportunity.
So most do not, beware indicator disturbances in children, among others:
* Malas eating and drinking
* Food or beverages that are often entry dimuntahkan
* Muscle weakness
* The growth and development of the subject
* Mushroom recurrent infection
* Front dismorfik
* Sometimes there are heart enlargement.
However, indeed, was not an indicator of specific symptoms. This means not only that the interference MMA marked with similar symptoms. "Possible interference with the body's metabolism is very much similar symptoms. Meanwhile, the laboratory examination
Indonesia
is not sufficient. By the doctor later blood samples will be sent to laboratories that have more complete facilities such as the
Australia
to enforce the diagnosis, "Dwi information.
Likewise Dwi, Naomi also give opinions, "So to see the early, screening should be done on newborn babies (newborn screening). By the way, use noktah dried blood on filter paper to be sent to a laboratory berkompetensi for that." But of course the cost of inspection is not cheap. Given the conditions
Indonesia
, Can be used only if not among the many who are able to do so.
DITURUNKAN PARENTS
Menelisik complexity of this interference caused MMA often escape the observation of the parents. Other things attached to them when symptoms are already very clear. "The time of birth, the baby with the MMA is usually normal, so difficult to distinguish them with the baby without the MMA," said Naomi.
Despite this disruption may have been found since the new born baby, but symptoms usually arise after a new baby consume protein from breastfeeding or Pasi. "What caused, the symptoms have been incurred while the results are not given the inspection process in the laboratory in such a complicated and can not be done here. If so, should do the restrictions Feed protein (between breastfeeding and the other from Pasi) to prevent the symptoms continued," Naomi information .
MMA is derived autosomal resesif. This means both parents carry genes morbid, but do not always cause symptoms closed because of work by the normal genes. If the two new genes rocker is met, then the baby is born will suffer MMA. "Parents who have detected this deviation, should immediately alert so have the baby," Dwi suggestions.
While the factors eating patterns,
fashion
life, pollution and so forth, according to Dwi no connection with this case. "Eating pattern that parents do not care when pregnant will not raise the difference in this baby. So this interference is completely descendants of factors," said Dwi.
In general, this interference can be divided into two, namely interference that occurs because defisien (lack of) or because defisien enzyme co-factor. Therefore, the penatalaksanaannya also be divided into two, namely:
* Defiasi enzyme
If defisien because enzymes, so do the restrictions Feed essential amino acid valine and isoleucine with a special formula milk on the baby. Before obtained special formula milk, liquid food temporary replacement will be provided under the supervision of doctors.
* Defiasi co-factor
- If defisien co-factors that happen, given enough vitamin B12.
- Conditions that can cause stress katabolisme protein, the body should be avoided.
In addition, information Dwi, not a baby with the MMA may also have disfunction other organs. "Doctors need to be cautious. For example, nerves brain, kidney disturbances, and so forth can be handling the case."
JARANG case
As mentioned above, the interference is very difficult to detect. However, if the left does not mean it will not bring bad effects, such as, "What is clearly visible interference and encourage the child. Looks emaciated babies usually difficult to eat because food and the entrance is often dimuntahkan. Even in a state of stress can cause coma until death," Dwi said.
Although quite rare case, parents should remain vigilant. Naomi is to suggest the following:
* If possible, should do newborn screening on each new baby born to detect the metabolic aberration in early default, including the MMA this aberration.
If you have a baby with the interruption of growth or development, should consult a doctor at the children.
* If there are family members who have such deviation, while the husband and wife want to have children again, consultation should do to detect the genetic aberration is prenatal care through the diagnosis.