IEM

Question 0

hexoaminidase A

Answer 0

Tay-Sachs: ganglioside galNAc-gal

cherry red spot, sound sensitivity, large head.
fatal by 4-5 if untreated

Question 1

beta-galactosidase

Answer 1

generalized gangliosidosis: ganglioside gal-galNAc

MPSIVb (Morquio B): keratin sulfate 3GalB1-4GlcNAcB
severe bone dysphasia

Question 2

glucocerebrosidase

Answer 2

Gaucher’s: ganglioside glc-ceramide

hepatosplenomegaly, bone issues, thrombocytopenia, growth retardation

Question 3

hexoaminidase A & B

Answer 3

Sandhoff’s: globoside GalNAc-gal

Question 4

a-galactosidase A

Answer 4

Fabry’s: globoside gal-gal

X-linked Autosomal corneal haziness, purple rash, pain in hands and feet.

Question 5

sphingomyelinase

Answer 5

Neinman-Pick: sphingomyelin ceramide-phosphocholine

Question 6

alpha-iduronidase

Answer 6

MPSI: Hurler&Scheie
dermatan & heparan sulphate ring link.

dysmorphic

Question 7

iduronidate sulfatase

Answer 7

MPS2: Hunter

dermatan sulfate S group

dysmorphic

Question 8

heparan N-sulfate

Answer 8

MPS3a. Sanfillipo A

heparan sulfate N-S

learning/behavioral/dementia

Question 9

a-N-acetylglucosaminidase

Answer 9

MPS3b. Sanfillipo B

heparan sulfate 2nd link

learning/behavioral/dementia

Question 10

N-acetylgalactoseamine-6-sulfatase

Answer 10

MPS4a. Morquio A

Keratan Sulfate S group

severe bone dysphasia

Question 11

NAc-galactosamine 4-sulfatase

Answer 11

MPS6: Maroteaux-Lamy

dermatan sulfate link S group

dysmorphic

Question 12

b-glucuronidase

Answer 12

MPS7. Sly

dermatan sulfate link 3

rare

Question 13

ankyrin

Answer 13

hereditary spherocytosis

spherocytes

AD

Question 14

CTFR gene

Answer 14

CF

Question 15

cytoplasmic dynein (MT)

Answer 15

Lissencephaly

lack of rigdes and folds in brain

Question 16

WASp/Arp activation

Answer 16

Waskott-Aldrich, low platelets, immunodeficiency

XLR

Question 17

LDL-R

Answer 17

Familial Chlosterolemia

AD

Question 18

Carnitine transporter

Answer 18

CTD

low plasma carnitine

Question 19

CPTII

Answer 19

carnitine palmitoyl transferase II.

muscle destruction, no long chain FA digestion

Question 20

Medium/Long chain acyl-CoA dehydrogenase

Answer 20

MCAD/LCAD

nonketotic hypoglycemia

Question 21

F-1-P aldolase

Answer 21

HFI

hypoglycemia after eating/drinking fructose

Question 22

1-P-uridyl transferase (GALT)

Answer 22

galactosemia

cataracts! liver disease sepsis, retardation

Question 23

glucose-6-phosphatase

Answer 23

GSD 1 Von Geirke’s

doll-like, enlarged liver

Question 24

glycogen synthetase

Answer 24

GSD 0 low glycogen stores. sweaty, hypoglycemic, enlarged liver

Question 25

F-1,6-diphosphatase

Answer 25

F-1,6-P deficiency ketonuria, no gluconeogenesis.

Question 26

Pyruvate carboxylase

Answer 26

Lactic acidosis noisy fast breathing, enlarged heart, weak muscles.

Question 27

N-acetylglucosamine1-phosphotransferase

Answer 27

I-cell no mannose-p-phosphates on lysosomal enzymes. high plasma lysosomal enzymes, CNS trouble, dwarfism, eye issues.

Question 28

adenosine deaminase

Answer 28

severe combined immunodeficiency (SCID) reduced B and T cells, XLR

Question 29

HGPRT

Answer 29

Lesch-Nyhan gouty, biting, XLR

Question 30

Phenylalanine hydroxylase (PAH)

Answer 30

Phenylketonuria (PKU) hypopigmentation, impaired brain function, musty body odor, low BH4 can live normal lives.

Question 31

Fumarylacetoacetate (FAH)

Answer 31

Tyrosinemia 1 liver kidney damage, tyrosul compounds build up.

Question 32

branched chain alpha keto acid dehydrogenase

Answer 32

MSUD maple syrup urine smell, ketoacidosis, failure to thrive

Question 33

Orthnithine Transcarbamylase

Answer 33

OTC deficiency. high blood ammonia. linked to estrogen response elements. XLR

Question 34

Mfn2

Answer 34

Charcot-Marie-Tooth no mito fusion. distal limbs effects, steppage gait, decrased tendon AD

Question 35

Opa1

Answer 35

Autosomal Dominant Optic Atrophy AD inner membrane mito fusion problems

Question 36

Large Deletions of Mito DNA, including tRNAs

Answer 36

Kearns-Sayre onset under 20, progressive eye weakness, pigment deposits in eye. ragged red fibers.

Question 37

T8993G and T899C mtDNA

Answer 37

70-90%: NARP neuropathy ataxia retinitis pigmose 90%+: MILS maternal Leighs syndrome: encephalopathy, psychomotor regression

Question 38

thymidine phosphorylase

Answer 38

MNGIE: mitochondrial neurogastrointestinal encephalomyopathy dropping lids, wasting, digestive immotility.

Question 39

homogentisic acid oxidase

Answer 39

alkaptonuria black pee, dark spots in eyes and cartilage