Metabolism

Question 1

Disorders presenting as hypoglycemia

Answer 1

Medium-chain and long chain fatty acid oxidation defects
Glycogen storage disease
Ketone utilization
Galactosemia

Question 2

Disorders presenting as encephalopathy

Answer 2

Propionic acidemia, methymalonic acidemia,other organic acidemias
Msud
Pku
Urea cycle defect

Question 3

Deficiency in pku

Answer 3

Tyrosine

Question 4

Toxic metabolite in pku

Answer 4

Phenylalanine

Question 5

Toxic metabolite in msud

Answer 5

Leucine

Question 6

In PKU there is Impairment of ____ metabolism leading to ___ deficiency

Answer 6

Tryptophan

serotonin

Question 7

accumulation of glycogen is stimulated by

Answer 7

insulin

Question 8

glucose 1-phosphate is converted to glucose 6-phosphate in the

Answer 8

Liver and kidneys

Question 9

glycogen storage diseases are characterized by

Answer 9

hypoglycemia

hepatomegaly

Question 10

Diseases that predominantly affect the liver and have a direct influence on blood glucose

Answer 10

types I, VI, and VIII
von gierke 1
hers 6

Question 11

Diseases that predominantly involve muscles and affect the ability to do anaerobic work

Answer 11

types V and VII
mcArdle 5
tarui 7

Question 12

Diseases that can affect the liver and muscles and directly influence blood glucose and muscle metabolism

Answer 12

type III

forbes 3

Question 13

Diseases that affect various tissues but have no direct effect on blood glucose or on the ability to do anaerobic work

Answer 13

types II and IV
pompe 2
anderson 4

Question 14

von gierke affected enzyme

Answer 14

glucose 6 phosphatase

Question 15

von gierke affected organs

Answer 15

liver
kidney
GI
platelet

Question 16

pompe affected enzyme

Answer 16

lysosomal A glucosidase

Question 17

pompe affected organs

Answer 17

all
striated muscle
nerves

Question 18

deficiency in galactosemia

Answer 18

galactose 1 phosphate uridyltransferase

Question 19

autosomal recessive
neonate with:
liver failure (hyperbil, coagulopathy, hypoglycemia)
 renal tubular dysfxn (acidosis, aminociduria), cataract

Answer 19

galactosemia

Question 20

infants with galactosemia at risk for

Answer 20

e coli sepsis

Question 21

acid base disorder in galactosemia

Answer 21

NAGMA hyperchloremic metabolic acidosis

Question 22

classic pku

Answer 22

phenylalanine unable to form/hydroxylation tyrosine

Question 23

enzyme deficient in tyrosinemia I

Answer 23

fumarylacetoacetate hydrolase

Question 24

enzyme deficient in homocystinuria

Answer 24

cystathione b synthase

Question 25

``` autosomal recessive dislocated ocular lens long slender extremities malar flushing livedo reticularis arachnodactyly scoliosus pectus mental retardation psych problem thromboses ```

Answer 25

homocystinuria

Question 26

tx of homocystinuria

Answer 26

pyridoxine plus folate methionine restriction cystine supplementation

Question 27

branched chain amino acids involved in msud

Answer 27

leucine isoleucine valine

Question 28

ornithine carbamoyltransferase deficiency results in low

Answer 28

low citrulline and arginine

Question 29

ammonia can be eliminated by

Answer 29

hemodialysis (NOT peritoneal) sodium benzoate sodium phenylacetate

Question 30

pellagra like symptoms | amino acid in urine

Answer 30

hartnup

Question 31

treatment of hartnup

Answer 31

add tryptophan

Question 32

propionic and methylmalonic acidemia produce

Answer 32

ketosis and hyperglycemia

Question 33

treatment of propionic and methylmalonic acidemia

Answer 33

vit b12 cobalamin

Question 34

sweaty feat odor

Answer 34

idovaleric acidemia | glutaric acidemia

Question 35

macrocephaly metabolic stroke like episodes (basal ganglia) dystonia autosomal recessive

Answer 35

glutaric acidemia

Question 36

most common error in beta oxidation in fat

Answer 36

medium chain acyl CoA dehydrogenase deficiency

Question 37

presentation of fatty acid oxidation disorder

Answer 37

hypoketotic hypoglycemia

Question 38

``` autosomal recessive absent peroxisome high forehead, flat orbital ridges, wide fontanells hepatomegaly hypotonia failure to thrive seizure death by 1 yr old ```

Answer 38

zellweger syndrome

Question 39

alpha L iduronidase deficiency cloudy cornea hepatosplenomegaly mental retardation

Answer 39

hurler | MPS I

Question 40

``` iduronate 2 sulfatase deficiency clear cornea hepatosplenomegaly mental retardation retinal degeneration, papilledema x linked ```

Answer 40

hunter | MPS II

Question 41

heparan sulfate deficiency clear cornea mental retardation may have hepatosplenomegaly

Answer 41

san filippo | MPS III

Question 42

galactose 6 sulfatase deficiency beta galactosidase deficiency faint clouding cornea normal CNS

Answer 42

morquiro | MPS IV

Question 43

deficient in gaucher

Answer 43

glucocerebrosidase

Question 44

deficient in niemann pick

Answer 44

sphingomyelinase

Question 45

deficient in tay sachs

Answer 45

hexosaminidase

Question 46

deficienct in fabry

Answer 46

alpha galatosidase | cerebrosidase

Question 47

deficient in krabbe (galactosyl-ceramide lipodosis)

Answer 47

galactocerebroside | beta galactosidase

Question 48

cherry red spot in retina

Answer 48

niemann pick | tay sachs

Question 49

foam cells and sea blue histiocytes in marrow

Answer 49

niemann pick

Question 50

muscle biopsy finding in mitochondrial disorders

Answer 50

ragged red fibers

Question 51

urine odor: | swimming pool

Answer 51

hawkisinuria

Question 52

urine odor: | cat urine

Answer 52

3 hydroxy 3 methylglutaric aciduria

Question 53

urine odor: | maple syrup

Answer 53

msud

Question 54

urine odor: | boiled cabbage

Answer 54

hypermethioninemia

Question 55

urine odor: | tomcat urine

Answer 55

multiple carboxylase deficiency

Question 56

urine odor: | hops like

Answer 56

oasthouse urine disease

Question 57

urine odor: | mousey or musty

Answer 57

phenylketonuria

Question 58

urine odor: | rotting fish

Answer 58

trimethylaminuria

Question 59

urine odor: | boiled cabbage/ rancid butter

Answer 59

tyrosinemia

Question 60

impaired degradation of ___ closely associated to mental retardation

Answer 60

heparin sulfate

Question 61

most common mucupolysaccharidosis

Answer 61

MPS III san filippo

Question 62

impaired degradation of _ , __ , __ prone to mesenchymal abnormalities

Answer 62

dermatan sulfate chondroitin sulfate keratin sulfate

Question 63

stem cell transplantation results in significant improvement in __ MPS

Answer 63

mps I, II, VI hurler 1 hunter 2 Maroteaux-Lamy 6

Question 64

enzyme replacement for ___ MPS

Answer 64

mps I, II, VI hurler 1 hunter 2 Maroteaux-Lamy 6

Question 65

skeletal dysplasia in MPS

Answer 65

dysostosis multiplex

Question 66

early xray findings in huler

Answer 66

thick ribs | ovoid vertebral bodies

Question 67

purines recovered from __

Answer 67

uric acid

Question 68

pyrimidines recovered from __

Answer 68

citric acid cycle

Question 69

in de novo pathway, | purines produced from _

Answer 69

ribose 5 phosphate

Question 70

in de novo pathway, | pyrimidines produced from _

Answer 70

carbamoyl phosphate

Question 71

Hypoxanthine-guanine phosphoribosyltransferase deficiency HGPRT x linked

Answer 71

Lesch nyhan

Question 72

xanthine oxidase inhibitor

Answer 72

allopurinol

Question 73

increase uric acid clearance

Answer 73

probenecid

Question 74

Hypoxanthine-guanine phosphoribosyltransferase HGPRT highest concentration in

Answer 74

basal ganglia

Question 75

hyperuricemia intellectual disability choreoathetosis spasticity

Answer 75

lesch nyhan

Question 76

counter regulatory hormones to insulin

Answer 76

epinephrine glucagon GH cortisol

Question 77

most common cause of persistent hypoglycemia in early infancy

Answer 77

hyperinsulinism

Question 78

most common form of childhood hypoglycemia

Answer 78

ketotic hypoglycemia

Question 79

peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body x linked

Answer 79

Adrenoleukodystrophy