treatable forms of intellectual disability review

[pnrobinson]

http://www.sciencedirect.com/science/article/pii/S1096719211006081

include this knowledge in MAO

[LCCarmody]

http://www.treatable-id.org/resources/literature-review.pdf @laurenechan This paper (cited in the above paper), is a good resource.

[LCCarmody]

Below are the terms suggested for PMID: 22212131 Many of these can be easily added via patterns.

Term	In MAXO	Notes:
fasting avoidance	yes
isoleucine restricted diet	no	pattern
dietary precursor restriction diet	no	?
cPMP (Cyclic Pyranopterin Monophosphate/Precursor Z) treatment	no	?
Betaine supplements,	no	pattern
folate supplementation	no	pattern
carnitine supplementation	no	pattern
methionine supplementation	no	pattern
Miglustat therapy	no
dietary protein restricion	yes	*
liver transplantation	yes	pattern
sodium benzoate/sodium phnylacetate treatment	no
sodium phnylbutyrate	no
Iron chelation	no
stem cell transplantion	no	pattern
gene therapy	yes
creatine supplementation	pattern
Haematopoietic stem cell transplantation	no	pattern
arginine supplementation	no	pattern
sodium benzoate	no
biotin supplementation	no	pattern
folinic acid supplementation	no	pattern
chenodesoxycholic acid supplementation	no	pattern
HMG reductase inhibitor	no
CoQ supplementation	no	pattern
Hydroxycobalamin	no	?
cyanocobalamin	no	?
methylcobalamin	no	?
glycine supplementation	no	pattern
BH4 diet	no	?
amine replacement	no	? Possibly a pattern
N-acetylcysteine	no	?
oral metronidazol	no	?
arginine restriction (or avoidance?)	no	? Possibly a pattern
ornithine supplementation	no	pattern
ketogenic diet	yes
lysine restriction	no	pattern
riboflavin supplementation	no	pattern
beta-hydroxybutyrate supplementation	no	pattern
methione restriction	no	? Possibly a pattern
pyridoxine supplementation	no	? Pattern
diazoxide	no	?
glycine restriction	no	? Possibly a pattern
NMDA receptor antagonist therapy	yes
neuromodulating agents	yes*	need synonym for CNS agent therapy
Dietary restriction branched amino-acids	no	pattern
copper histidine supplementation	no	?
Precursor Z/cPMP	no	?
citrulline supplementation	no	pattern
thiamine supplementation	no	pattern
phenylalanine restriction	yes	pattern
amino acid supplementation	no	pattern
L-serine supplementation	no	pattern
uridine supplementation	no	pattern
low fat diet	no
medium chain supplementation	no	pattern
essential fatty acid supplementation	no	pattern
zileuton	no	?
cholesterol supplementation	no	pattern
simvastatin	no	probably not
vigbatrin	no	?
L-dopa substitution	no	?
tyrosine restriction	no	pattern
zinc supplementation	no	pattern
sick day mangement	no	? "; sick day management ensuring sufficient calorie intake during illnesses" "The diabetes care team should provide clear guidance to patients and families on how tom manage diabetes during intercurrent illnesses to avoid complications of ketoacidosis, dehydration, uncontrolled or symptomatic hyperglycemia, hypoglycemia." PMID: 18036069 " Everyone with a child who has a metabolic disorder needs to be prepared for those days when the child experiences the flu or a cold and changes need to be made in nutrient intake. With the increased fluid and caloric requirement associated with fever, children with metabolic disorders are at risk of having their disorder become uncontrolled. The best way to prevent this is to increase calories and fluids and reduce the amount of natural protein that is usually taken. Every patient should have a sick day plan and a sick day diet individualized for them by their metabolic staff." MSUD-support.org