Plasma amino acids identify
Protein metabolic disorders
Urine organic acids identify
Organic academia and fatty acid oxidation disorders
Plasma acarine profile detect
Protein and fatty acid oxidation disorders
Ketosis with elevated valine, leucine and isoleucine
Maple syrup urine disease
Remove leucine - the others aren’t the problem
Organic academia
Propionic academia, methylmalonic academia, isovaleric acidemia
Pyruvate carboxylase requires
Biotin
Private dehydrogenase requires
Thiamine
The two glycogen storage diseases that happen in the neonatal period
Type 1 Von gierke
Type 2 pompe
Galactosemia
Urine non-glucose reducing substances
Disorders of amino acid metabolism
Abnormal serum amino acids
Organic academia
Abnormal urine organic acids
Fatty acid oxidation defects
Abnormal acylcarnitinr profile
Glycogen storage disease diseases
Increase serum, ketones, and lactate
Metabolic diseases that have dysmorphic features
Smith-Lemli-opitz- cholesterol
Zellweger - peroxisome
Menkeys- copper
