Beruflich Dokumente
Kultur Dokumente
Robert D. Steiner, MD
Associate Professor, Pediatrics and Molecular
and Medical Genetics
Head: Division of Metabolism
OHSU
Inborn Errors of Metabolism
Neurologic Signs
Poor suck
Lethargy (progressing to coma)
Abnormalities of tone
Loss of reflexes
Seizures
Gastrointestinal Signs
Poor feeding
Vomiting
Diarrhea
Respiratory Signs
Hyperpnea
Respiratory failure
Organomegaly
Liver
Heart
Inborn Errors of Metabolism of Acute Onset: Nonacidotic,
Nonhyperammonemic Features
Jaundice Prominent
Galactosemia
Hereditary fructose intolerance
Menkes kinky hair syndrome
1-antitrypsin deficiency
Cardiomegaly
Glycogen storage disease (type II phosphorylase kinase b deficiency 18)
Fatty acid oxidation defects (LCAD)
Substrate Product
(increased) (decreased)
action
Co-factor A Co-factor B
other
Metabolites enzymes Metabolites
(increased) (decreased)
FRUCTOSE
AMINO ACIDS GALACTOSE
AMMONIA
PYRUVATE LACTATE
ACETYL CoA
UREA CYCLE
KETONES
UREA KREBS CYCLE
NADH ATP