|
TABLE III -
Therapeutic Modalities11,12
|
Disease
|
Alerting
sign |
Glycogen
storage disease type I
|
Nocturnal
feeding of slowly digested glucose polymer; avoidance of
fructose in severe cases |
Fructose
-1,6-diphosphatase deficiency
|
Avoidance
of fructose or sucrose containing food, antibiotic or antipyretic
solutions
|
Glycogen storage disease
type 3
|
Similar to type 1, experimental
use of alanine to prevent the appearance of cardiomyopathy |
Galactosemia
|
Galactose
free milk
|
Maple syrup
urine disease
|
Branched
chain restricted milk formulas |
Classic
PKU
|
Phenylalanine
restricted formulas and food |
Homocystinuria
|
Low protein
or methionine restricted diet, betaine, folic acid, aspirin
and in responsive variants, pyridoxine |
6-PTS deficient PKU
|
Tetrahydrobiopterin,
neurotransmitter precursors as DOPA and 5-hydroxytrtyptophan
with carbi-DOPA |
| Non-ketotic
hyperglycinaemia |
High doses
of dextrometorphan and sodium benzoate |
Methylmalonic acidaemia |
Insoleucine, and valine
restricted diet, and intranasal or IM injections of hydroxycobalamin,
alkalinizing citrate solutions, L-carnitine |
Propionic acidaemia
|
Isoleucine and valine
restricted diet; avoidance of fasting, L-carnitine, alkalinizing
solutions of citrate |
| Biotinidase deficiency |
Biotin |
| Fatty acid oxidation
defects |
Frequent high carbohydrate
feedings, L-carnitine |
