Metabolics Flashcards
Respiratory alkalosis
Urea cycle defect
Urine orotic acid
Elevated in OTC deficiency
Jaundice
Galactosemia Fructose intolerance Tyrosinemia Crigler Najjar (unconj) Dubin Johnson (conj)
Liver failure
Galactosemia fructose intolerance Tyrosinemia GSD IV Mitochondrial
Hepatomegaly
GSD I and III
MPS 1 and II
Gaucher
Niemann Pick
High ammonia
Ketosis
neutropenia. Thrombocytopenia
MmA or PPA
Sweaty feet smell
Isovaleric acidemia
RTA
Cataracts
E colii sepsis
Hypoglycemia
Galactosemia
Smith Lemli Opitz syndrome
Cholesterol biosynthesis
Subdural
GA1
Urine dnph
Maple syrup urine disease
Hypoglycemia
Liver and kidney failure
After introduction of fruit juice
Fructose intolerance
GALK deficiency
Cataracts
Cant hydroxylate phenylalanine to tyrosine
Pku
Treatmment of tyrosinemia 1
Nitisinone NTBC
Stops production of toxic succinylacetone
Low tyrosine, low phenylalanine diet
Previously liver transplant
2 forms of homocystinuria
1 - pyridoxine responsive.
Folate supplementation. Sometimes betaine
Less likely to be picked up on newborn screen
2 - not pyridoxine responsive
Betaine supplementation. Sometimes b12/folate
Amino acidopathies
Msud
Tyrosinemia
Homocystinuria
Pku
Presentation of msud
1-4weeks old Hypoglycemia Variable metabolic acidosis (Cerebral edema) Alternating hypotonia /hypertonia, opisthotonos, seizures
Treatment of high ammonia
Sodium benzoate - alternative pathway for elimination
Iv dextrose - suppress catabolism of protein
Arginine - treat deficiency
Dialysis
Liver transplant
Presentation of PA and MMA
Poor feeding Hypoglycemia Ketosis Hyperglycinemia Neutropenia. Thrombocytopenia High ammonia
Treatment of PA and MMA
Mma - b12
Restrict protein
Carnitine supplementation
Abx to reduce gut production
Treatment of isovaleric
Restrict leucine
Give glycine to conjugate isovaleric acid
Glutaric acidemia 1
Presentation
Macrocephaly
Stroke like episodes basal ganglia
- dystonia
GA1 treatment
Restrict protein
Medical food
