Inborn error of metabolism Flashcards
Pyruvate carboxylase deficiency is an _______________ disorder.
Autosomal recessive pie roots have reeceses, mitochondrial disorder.
Treatment of pyruvate cardoxylase deficiency is
Biotin
Which IEM presents with metabolic acidosis, elevated pyruvate, lactate concentrations, ketonuria, and hyperammonemia.
Pyruvate carboxylase deficiency
Type 1 glycogen storage disease, only one with _______, has what enzyme deficiency
Lactic acidosis, glucose 6 phosphatatse
Most common urea cycle defect, inherited in what pattern, elevated urine orotic acid, increased serum glutamine and alanine, decreased serum citrulline and arginine
Ornithine carbamyl transferse deficiency, x-linked recessive pattern, treat by removing nitrogen load, possibly sodium Benzoate or sodium phenyacetaye
The only urea cycle disorder that has high arginine
Arginase ( AR, spastic diplegia, orotic aciduria)
The 2 urea cycle disorders that has low urine orotic acid
Carbamyl phosphate synthetase (AR), n-acetylglutamate synthetase
The three urea cycle disorders with low citrulline
N-acetylglutamate synthetase, carbamyl phosphate synthetase, ornithine carbamyl transferase (x-linked recessive)
All urea cycle disorders have high
Glutamine/alanine
Tyrosinemia May be distinguished from the benign transient tyrosinemia because tyrosinemia also has elevated serum and urine __________ and positive ____________.
Succinylacetone levels and positive urine reducing substances.
Biotindase deficieny is an __________ disorder. Symptoms include immune dysfunction, alopecia, and skin rash. May lead to neurological dysfunction, seizures, hypotonia, lethargy. Ataxia, blindness, and hearing loss.
Autosomal recessive,
Menkes disease inheritance pattern
X-linked recessive disorder
Autosomal recessive disease resulting from the defective cleavage of glycine to ammonia
Non-ketotic hyperglycemia, elevated urine, blood, and cerebrospinal glycine concentrations
Defect in gaucher 1 and gaucher 2, glucosylcetamide lipidosis
Glucocerebroosodase
Defect in Niemann Pick A and B, spingomyelin lipidosis
Sphingomyelinase (foams cells)
Tay-Sachs, GM-2 gagliosidosis
Hexosaminidase A
Gerneralized gangliosidosis infantile GM1 (inclusion in WBC and cherry red spots) and galactosyl-ceramide lipidosis Krabbe disease (optic atrophy)
Beta- galactosidase
Metachromatic leukodystrophy (profound CNS loss)
Arylsulfatase A
Fabry disease (x-linked, cloudy corneas)
Alpha-galactosidase
Wolman disease (profound CNS loss, adrenal calculations, inclusion in WBC)
Acid lipase
Infant who are exclusively breastfed are as symptomatic until formula is introduced may have
Fructose 1-phosphate aldolase
Galactosemia diagnosis
Urine non-glucose reducing substances
Disorders of amino acid metabolism diagnosis
Abnormal serum amino acids
Fatty acid oxidation defects diagnosis
Abnormal acylcarnitine profile
