|
TABLE III -
Therapeutic Modalities11,12
|
Disease
|
Alerting
sign |
HMG
CoA lyase deficiency
|
Leucine
restricted, low fat high carbohydrate diet, alkalinizing
solutions (citrate; bicarbonate), L-carnitine |
Pyruvate
carboxylase deficiency
|
Biotin should
be tried in all patients since some will respond favourably |
Glutaric
aciduria type I
|
Riboflavin,
L-carbitine, baclophene, lysine restricted diet |
| Isovaleric
academia |
Leucine
restricted or low protein diet, L-carnitine, and alkalinizing
solutions |
|
PRACTICAL POINTS
|
1.
|
The Middle
Eastern culture is heavily consanguineous. Inherited genetic
disorders are quite common; especially inherited metabolic
disorders |
2.
|
The
practicing physician must be aware of these disorders, especially
those which present in the neonatal period or the first
year of life. |
3.
|
The awareness
of these disorders is important to facilitate early diagnosis
and initiation of treatment especially in cases of organic
acidurias and aminoacidemias, to prevent neurologic crippling,
and in lysosomal storage disorders to initiate bone marrow
transplantation or enzyme treatment, which is preferably
done in the first year of life, to prevent the progression
of the disease. |
| 4. |
As
treatment is either difficult and expensive or unavailable.
Prevention of these disorders by premarital genetics screening
(eg. Sickle cell anaemia and thalassaemia). Neonatal screening
eg. Organic acidemias, aminoacidemias and pre-implantation
genetics diagnosis11, if the exact molecular defect is known
in any of these disorders and last but not least prenatal
diagnosis and abortion, if this can be done before 120 days
of conception (134 days from last menstrual period) if the
disorder is incompatible with life, according to the recommendations
of our Islamic leaders. |
|
|
|
|
