Inborn Errors Of Metabolism Flashcards
Mode of inheritance: Adrenoleukodystrophy
X linked
Mode of inheritance: OTC deficiency
X linked
Mode of inheritance: Hunter Syndrome
X linked
Mode of inheritance: Lesch Nyhan
X linked
Mode of inheritance: Menkes Disease
X linked
Most common disorder of amino acid metabolism
PKU
Decreased hair and skin pigmentation
PKU
Musty or mousy odor
PKU
Elevated methionine
Homocystinuria
Tx for Homocystinuria
Pyridoxine
Low methionine diet
Accumulation of succinylacetone
Tyrosinemia type 1
Hiccups in utero
Nonketotic hyperglycinemia
Neonatal seizures and apnea requiring intubation
Nonketotic hyperglycinemia
Glycine accumulates in all tissue esp. brain
Nonketotic hyperglycinemia
Hyperammonemia, increased glutamine, no ketones
Urea cycle defect
Respiratory alkalosis
Urea cycle defect
High orotic acid
OTC deficiency
Trichorrhexis nodosa
Argininosuccinic Aciduria
UOA with elevations of lactic acid and MMA
Methylmalonic Aciduria
Metabolic acidosis and elevated anion gap
Organic acidemia
Hyperammonemia, ketoacidosis, hypoglycemia
Organic acidemias
Tx: low protein diet
Organic acidemias and urea cycle defects
Mennonite
MSUD
Elevated valine, isoleucine, and leucine
MSUD. Alloisoleucine is diagnostic.
Sweaty feet odor
Isovaleric acidemia
Causes retinal hemorrhages and subdural hematomas (not shaken baby syndrome)
Glutaric acidemia type 1
Pancreatitis, dermatitis, pancytopenia, cardiomyopathy, and ketotic hyperglycinemia
Propionic Acidemia
Hyperbilirubinemia
Galactosemia
Deficiency in GALT
Galactosemia
E. Coli sepsis
Galactosemia
Positive urine reducing substances
Galactosemia, hereditary fructose intolerance