Inborn error of metabolism

Question 1

Pyruvate carboxylase deficiency is an _______________ disorder.

Answer 1

Autosomal recessive pie roots have reeceses, mitochondrial disorder.

Question 2

Treatment of pyruvate cardoxylase deficiency is

Answer 2

Biotin

Question 3

Which IEM presents with metabolic acidosis, elevated pyruvate, lactate concentrations, ketonuria, and hyperammonemia.

Answer 3

Pyruvate carboxylase deficiency

Question 4

Type 1 glycogen storage disease, only one with _______, has what enzyme deficiency

Answer 4

Lactic acidosis, glucose 6 phosphatatse

Question 5

Most common urea cycle defect, inherited in what pattern, elevated urine orotic acid, increased serum glutamine and alanine, decreased serum citrulline and arginine

Answer 5

Ornithine carbamyl transferse deficiency, x-linked recessive pattern, treat by removing nitrogen load, possibly sodium Benzoate or sodium phenyacetaye

Question 6

The only urea cycle disorder that has high arginine

Answer 6

Arginase ( AR, spastic diplegia, orotic aciduria)

Question 7

The 2 urea cycle disorders that has low urine orotic acid

Answer 7

Carbamyl phosphate synthetase (AR), n-acetylglutamate synthetase

Question 8

The three urea cycle disorders with low citrulline

Answer 8

N-acetylglutamate synthetase, carbamyl phosphate synthetase, ornithine carbamyl transferase (x-linked recessive)

Question 9

All urea cycle disorders have high

Answer 9

Glutamine/alanine

Question 10

Tyrosinemia May be distinguished from the benign transient tyrosinemia because tyrosinemia also has elevated serum and urine __________ and positive ____________.

Answer 10

Succinylacetone levels and positive urine reducing substances.

Question 11

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.

Answer 11

Autosomal recessive,

Question 12

Menkes disease inheritance pattern

Answer 12

X-linked recessive disorder

Question 13

Autosomal recessive disease resulting from the defective cleavage of glycine to ammonia

Answer 13

Non-ketotic hyperglycemia, elevated urine, blood, and cerebrospinal glycine concentrations

Question 14

Defect in gaucher 1 and gaucher 2, glucosylcetamide lipidosis

Answer 14

Glucocerebroosodase

Question 15

Defect in Niemann Pick A and B, spingomyelin lipidosis

Answer 15

Sphingomyelinase (foams cells)

Question 16

Tay-Sachs, GM-2 gagliosidosis

Answer 16

Hexosaminidase A

Question 17

Gerneralized gangliosidosis infantile GM1 (inclusion in WBC and cherry red spots) and galactosyl-ceramide lipidosis Krabbe disease (optic atrophy)

Answer 17

Beta- galactosidase

Question 18

Metachromatic leukodystrophy (profound CNS loss)

Answer 18

Arylsulfatase A

Question 19

Fabry disease (x-linked, cloudy corneas)

Answer 19

Alpha-galactosidase

Question 20

Wolman disease (profound CNS loss, adrenal calculations, inclusion in WBC)

Answer 20

Acid lipase

Question 21

Infant who are exclusively breastfed are as symptomatic until formula is introduced may have

Answer 21

Fructose 1-phosphate aldolase

Question 22

Galactosemia diagnosis

Answer 22

Urine non-glucose reducing substances

Question 23

Disorders of amino acid metabolism diagnosis

Answer 23

Abnormal serum amino acids

Question 24

Fatty acid oxidation defects diagnosis

Answer 24

Abnormal acylcarnitine profile

Question 25

Organic acidemias

Answer 25

Abnormal urine organic acids

Question 26

Glycogen storage disease

Answer 26

Increased serum ketones and lactate

Question 27

Organic acidemias and pyruvate metabolism defects or mitochondrial energy metabolism defects results in

Answer 27

Metabolic acidosis ( urea cycle and transient hypoerammonemia of the newborn do not)

Question 28

Pyruvate metabolism defect or mitochondrial defects result in ______while organic acidemia, urea cycle defects do not

Answer 28

Lactic acidosis

Question 29

Organic acidemias are marked by

Answer 29

Abnormal urine organic acids

Question 30

Urea cycle defects have ________ while organic acidemias, pyruvate metabolism or mitochondrial defects do now

Answer 30

Abnormal plasma amino acids

Question 31

Glycogen storage disease, hereditary fructose intolerance, pyruvate metabolis , mitochondrial defect, and organic acidemias, fatty acid oxygenation disorder (can or cannot) all have a______

Answer 31

Lactic acidosis