Biochem - Rice Article Flashcards
Fatty acid oxidation disorders - metabolic error
Fat - Defect in beta-oxidation of fatty
acids.
Fatty acid oxidation disorders - specific disorders
Medium-chain acyl CoA dehydrogenase, Long-chain 3-hydroxy acyl CoA dehydrogenase, Very long-chain acyl CoA dehydrogenase
Fatty acid oxidation disorders - presentation
Hypoketotic Hypoglycemia!
Lethargy, vomiting, sudden infant death syndrome, Reye syndrome
Long-chain disorders have cardiomyopathy and rhabdomyolysis
Fatty acid oxidation disorders - laboratory tests
NBS
Plasma acylcarnitines
Hypoglycemia
No or inappropriately low ketones
Fatty acid oxidation disorders - acute treatment
Dextrose (10% with salt)
Early use of fluids to prevent hypoglycemia
Fatty acid oxidation disorders - chronic management
Low-fat diet
Avoid prolonged fasts
Nighttime feedings when sick
Carnitine
Echocardiography for long-chain fatty acid oxidation disorders
Organic acidemias - metabolism error
Protein - Defect in amino acid
breakdown leads to
accumulation of organic
acid byproducts
Organic acidemias - disorders
Propionic
Methylmalonic
Isovaleric
Organic acidemias - presentation
Metabolic Acidosis With Anion Gap
Neonatal lethargy, vomiting, coma, strokes, death
Organic acidemias - lab tests
Newborn Screen
Urine organic acids
Plasma acylcarnitines
Organic acidemias - acute treatment
Dextrose (10% with salt) Early use of fluids No protein Intravenous lipid emulsion Dialysis may be needed in sick neonate
Organic acidemias - chronic management
Low-protein diet
Supplemental medical food
Carnitine
Liver transplantation
Aminoacidopathies - metabolism error
Protein
Defect in amino acid breakdown leads to accumulation of certain intact amino acids
Aminoacidopathies - disorders
Maple syrup urine
Phenylketonuria
Homocystinuria
Tyrosinemia
Aminoacidopathies - lab tests
Newborn Screen
Plasma amino acids
Aminoacidopathies - presentation
No Acidosis or Hyperammonemia
Elevations in specific amino acids
(See article for clinical features of specific disorders)
Aminoacidopathies - acute treatment
For maple syrup urine disease, similar to organic acidemias
Avoid hyponatremia
Aminoacidopathies - chronic management
Restrict offending amino acid
Supplemental food
Monitor plasma amino acids
Urea cycle disorders - metabolism error
Protein
Defect in makingurea(blood urea nitrogen) from ammonia that results from amino acid breakdown
Urea cycle disorders - disorders
Ornithine transcarbamylase (X-linked)
Citrullinemia
Arginosuccinic aciduria
Urea cycle disorders - lab tests
Newborn Screen (not for ornithine transcarbamylase) Hyperammonemia
Plasma amino acids
Urine orotic acid
Urea cycle disorders - presentation
Hyperammonemia Without Acidosis
Neonatal lethargy, vomiting, coma, death
Urea cycle disorders - acute treatment
Dextrose (10% with salt)
Early use of fluids
Sodium benzoate/ phenylacetate
Arginine Dialysis
Urea cycle disorders - chronic management
Low-protein diet Supplemental food Phenylbutyrate Arginine/citrulline Liver transplantation
