Iem & Lysosomal Storage Diseases

Front 1

Hepatomegaly, splenomegaly, MR, cherry red macula, foam cells on peripheral smear

Back 1

Niemann-Pick

Front 2

enzyme def of Niemann Pick?

Back 2

Sphingomyelinase

Front 3

Hepatomegaly, splenomegaly, MR, Jews

Back 3

Gaucher’s

Front 4

enzyme def in gauchers?

Back 4

B- glucosidase

Front 5

MR, blindness, deafness, convulsions, paralysis

Back 5

Krabbe

Front 6

enzyme def in Krabbe?

Back 6

B-galactosidase

Front 7

MR, Psych problems, dementia

Back 7

Metachromatic Leukodystrophy

Front 8

enzyme def in Metachromatic Leukodystrophy

Back 8

Aryl sulfatase

Front 9

Angiokeratomas, reddish-purple rash, kidney failure, heart failure

Back 9

Fabry’s

Front 10

enzyme def in Fabrys?

Back 10

A-galactosidase

Front 11

MR, cherry red macular, Jews

Back 11

tay-sachs

Front 12

enzyme def in tays?

Back 12

hexosaminidase

Front 13

Unpigmented eyes +/- hair and skin (if AR), increased squamous cell CA, melanoma, actinic keratosis

Back 13

Albinism

Front 14

enzyme def in albinism

Back 14

Tyrosinase

Front 15

Musty odor of urine, hypopigmentation, MR

Back 15

Phenylketonuria

Front 16

enzyme def in Phenylketonuria

Back 16

Phenylalanine hydroxylase

Front 17

Degenerative arthritis, darkly pigmented urine (when exposed to air), pigmentation of connective tissue

Back 17

Alkaptonuria

Front 18

enzyme def in Alkaptonuria

Back 18

Homogentisate oxidase

Front 19

Urine smells like maple syrup or burnt sugar, evident by week 1 of age, extensive brain damage occurs, accumulation of branched chain AA’s

Back 19

Maple syrup urine disease

Front 20

enzyme def in Maple syrup urine disease

Back 20

A- Ketoacid dehydrogenase

Front 21

MR, lens dislocation, increased CAD, decreased cognition, increased platelet aggregation and endothelial damage

Back 21

Homocystinuria

Front 22

enzyme def in Homocystinuria

Back 22

Cystathionine synthase deficiency

Front 23

Cystine urolithiasis

Back 23

Cystinuria

Front 24

deficit in Cystinuria

Back 24

Membrane transport of AA’s (cysteine, ornithine, arginine, lysine)

Front 25

Yields niacin deficiency -> pellagra

Back 25

Hartnup disease

Front 26

deficit in Hartnup disease

Back 26

Membrane transport of tryptophan

Front 27

A 5-day-old infant presents to the ED with frequent vomiting, lethargy and failure to gain weight. Respiratory rate is elevated and mild hepatomegaly is evident on physical exam. Blood glucose, AST and ALT levels are in the normal range but ammonia is elevated. This patient’s symptoms are most likely caused by deficient expression of

Back 27

Ornithine transcarbamoylase

Front 28

A 2- week-old breast fed infant presents to the ED with frequent vomiting and lethargy. Physical findings include jaundice, cataracts and hepatomegaly. Labs show elevated galactose, elevated direct and indirect bilirubin and prolonged PT. Temperature is normal and there are no signs of respiratory distress. This patient’s symptoms and lab findings are most likely due to

Back 28

Galactose-1-phoshate uridyltransferase deficiency
*remember longer name - more problems

Front 29

Galactokinase deficiency causes

Back 29

cataracts only!

Front 30

outline galactose metabolism pthway

Back 30

galactose--(galactokinase)--> Galactose-1-P--(GALT)--> glucose-1-P

Front 31

A 4-year-old child recently adopted from Latvia is being evaluated for abnormal gait and developmental delay. Her hair and complexion are extremely fair and she has a noticeably “mousy” odor. Blood testing shows elevated levels of phenylalanine and phenylacetate. This child’s fair complexion is due to deficient

Back 31

tyrosine synthesis

Front 32

Which vitamin supplement may benefit a patient with PKU?

Back 32

BH4

Front 33

What should be avoided in a PKU patient’s diet

Back 33

Aspartame, phenylalanine

Front 34

Which amino acid should be supplemented in a PKU patient’s diet

Back 34

tyrosine

Front 35

severe fasting hypoglycemia plus elevated uric acid, hyperlipidemia and/or lactic acidosis =

Back 35

glucose-6-phosphatase deficiency (GSD1a, Von Gierkes)

Front 36

A 2-year-old male patient is being evaluated for a potential developmental delay. His length is below the 2nd percentile for his age and his facial appearance is course. Language development is behind what would be expected. There is no evidence of corneal clouding. Heparan and dermatan sulfate are detected in his urine. Which of the following is the most likely diagnosis?

Back 36

Hunter- no corneal clouding

Front 37

2 most common mucopolysaccharidoses?

Back 37

hunter and hurler

Front 38

enzyme def in hurler

Back 38

iduronidase deficiency)

Front 39

enzyme disorder in Hunter

Back 39

iduronate sulfatase deficiency

*hunters live longer- longer enzyme name

Front 40

hunter vs hurler

Back 40

hurler corneal clouding--> **hurlers can't be hunters because they can't see

Front 41

A 16 year old patient presents with fatigue, bone pain and ease of bruising. Physical exam and lab studies show splenomegaly, low hematocrit and thrombocytopenia. A deformity of the lower femur is seen on X-ray. The patient’s symptoms are caused by accumulation of which of the following molecules in macrophages?

Back 41

Glucosylceramide