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hypoglycemia
hypotonia, vomiting, diarrhea, hepatomegaly, jaundice…
hypoglycemia
- hypotonia, vomiting, diarrhea, hepatomegaly, jaundice
ketone level?
low
fatty acid
- hypoglycemic hypoketoic
- 3mo-2yr
acylcarnitine level?
low
primary carnitine deficiency
- low carnitine
- musle weakness, cardiomyopathy
high
MCAD
- impaired beta ox
- dicarboxylic acid
glycogen storage dz
Not hypogly
pompei
- cardiomegaly
- PomPe trashes PumP (a1,4 glucodisease def) heart, liver, muscle
-
lactic acidois?
- fasting (hrs after eating)
-
No: Cori
- intact gluconeogenesis
- mild hypogly
reducing sugar in urine
- no glucose (depleted ATP)
- fructose/galactose
yes: hereditary fructose intolerance
- fructose (not in breast milk
- Aldolase B deficiency
no: Galactosemia
- galactose 1p UT deficiency (GALT)
- breast milk: lactose-> galactose+glucose
- galacitol (cataract), intellectual disability
-