1
main types
- methyl-malonic acidemia
- propionic acidemia
- isovaleric acidemia
- MSUD
2
DIAGNOSIS
- in infency
- gas chro-mato-graphy-mass spectrometry
3
prognosis
- neurological damage
- developmental delay
- poor feeding
- hypotonia
- hyperammonemia
- metabolic acidosis
- ketoacidosis
- hypoglycemia
- delayed growth
- vomiting
- lethargy
- dehydration
- malnutrition
4
treatment
- restricted protein
- high carbohydrates
- vitamin supplements
- AA substitute
- carnitine
- IV fluids
- tube feeding
- Vit B12
5
propionic acidemia enzyme defect and its role
- propionyl - CoA- carboxylase
- valine, isoleucine, methionine, threonine > VOMIT
- cholesterol
- odd carbon numbered FA
6
Propionic acidemia symptoms
- feeding refusal
- generalized hypotonia
- vomiting
- weight loss
- letheragy
- abnormal posture & movement
- seizures
- coma
- brain damage
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PPA monitoring
- propionic acid
- ammonia
- uric acid
- urinary ketones
- lactate
- blood gases
- glucose
- AA analysis
- carnitine
- acylcarnitine
8
PPA nutrition
- restrict VMIT
- avoid fasting
- high energy
- moderate protein > formula
- essential fatty acids
- minerals
- vitamins
- NG / PEG
9
PPA acute illness treatment
- stop all natural protein
- glucose + lipid + ORS
- carnitine
- sodium benzoate & phenylbutyrate
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glutaric acidemia
- LT
- lysine
- tryptophan
- latter see you at the gala
11
3-hydroxyisobytaric aciduria
- Valine
12
isovaleric acidemia
- Leucine
13
methylmalonic acidemia
propionic acidemia
- valine
- isoleucine
- methionine
- threonine
- VMIT