metabolism Flashcards
defect in protein/AA metabolism
organic acidemia
elevated ammonia, metabolic acidosis, high anion gap, ketosis
organic acidemia
can have cell count suppression 22 acidosis
sweaty feet smell
isovaleric acidemia (organic acidemia)
hypoglycemia in time of fasting/starvation; hepatomegaly, normal AAs, elevated ammonia, no ketosis
fatty acid oxidation defects
- MCAD most common
- dx: plasma acylcarnitine profile
poor feeding, FTT, reducing substances in urine, hypoglycemia
galactosemia
- E coli sepsis
dx of galactosemia
RBC GALT measurement
tx of galactosemia
soy formula, galactose/lactose free diet
sequelae of galactosemia
cataracts (reversible), ID, liver disease
hypoglycemia, seziures, macrocephaly, macrosomia
hyperinsulinism
hypoglycemia, macrosomia, macroglossia, microcephaly, omphalocele
Beckwith Wiedemann
doll face, hypoglycemia, hepatomegaly, elevated triglycerides and cholesterol
GSD type I
hepatic glucose 6 phosphatase deficiency
tx: continuous glucose feedings, corn starch
floppy with “hard” muscles, FTT, cardiomegaly, hepatomegaly, macroglossia
GSD type II (Pompe)
deficiency in lysosomal breakdown of glycogen
DO NOT get hypoglycemia
hyperammonemia without acidosis or ketosis; can have lactic acidosis, encephalopathy
urea cycle defects - e.g. OTC deficiency
tx: reduce protein intake
lethargy, ketonuria, poor feeding, sweet urine
MSUD
BCAA breakdown problem
dislocated lens (downward), skeletal abnormalities, cognitive defects, VTE risk, light skin, unpleasant odor
homocystinuria
tx: low methionine and low proteine diet
supp with betaine, folate, vit B12
lethargy, rash, diarrhea in PKU baby
phenylalanine deficiency
facial coarsening, hirsutism, hepatosplenomegaly, corneal clouding, thick skull
Hurler syndrome (mucopolysaccharidosis I)
coarse facial features, joint contractures, organomegaly, pebbly skin, short, skeletal abnormalities
Hunter syndrome
Hunter vs Hurler
Hurler - corneal clouding
Hunter - X-linked R
both: hepatoxplenomegaly, deafness
hepatosplenomegaly, bone pain, easy brusiing
Gaucher - lipid storage disorder
thrombocytopenia
osteosclerosis, lytic lesions
infantile vs juvenile gaucher
infantile - CNS deterioration, decreased beta glucosidase activity
juvenile - no CNS involvement, + splenomegaly
normal dvlpmt to 9 months, then lethary, hypotonia, exaggerated startle, cherry red spot, blindness, seizures
Tay Sachs
AR
hexosaminidase A
CNS deterioration, cherry red spot, hepatosplenomegaly
Niemann Pick
myopathy, neurologic sx, deafness, seizures, stroke, cardomyopathy
mitochondrial disorder
