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IEM Flashcards

0
Q

hexoaminidase A

A

Tay-Sachs: ganglioside galNAc-gal

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

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1
Q

beta-galactosidase

A

generalized gangliosidosis: ganglioside gal-galNAc

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

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2
Q

glucocerebrosidase

A

Gaucher’s: ganglioside glc-ceramide

hepatosplenomegaly, bone issues, thrombocytopenia, growth retardation

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3
Q

hexoaminidase A & B

A

Sandhoff’s: globoside GalNAc-gal

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4
Q

a-galactosidase A

A

Fabry’s: globoside gal-gal

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

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5
Q

sphingomyelinase

A

Neinman-Pick: sphingomyelin ceramide-phosphocholine

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6
Q

alpha-iduronidase

A

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

dysmorphic

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7
Q

iduronidate sulfatase

A

MPS2: Hunter

dermatan sulfate S group

dysmorphic

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8
Q

heparan N-sulfate

A

MPS3a. Sanfillipo A

heparan sulfate N-S

learning/behavioral/dementia

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9
Q

a-N-acetylglucosaminidase

A

MPS3b. Sanfillipo B

heparan sulfate 2nd link

learning/behavioral/dementia

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10
Q

N-acetylgalactoseamine-6-sulfatase

A

MPS4a. Morquio A

Keratan Sulfate S group

severe bone dysphasia

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11
Q

NAc-galactosamine 4-sulfatase

A

MPS6: Maroteaux-Lamy

dermatan sulfate link S group

dysmorphic

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12
Q

b-glucuronidase

A

MPS7. Sly

dermatan sulfate link 3

rare

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13
Q

ankyrin

A

hereditary spherocytosis

spherocytes

AD

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14
Q

CTFR gene

A

CF

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15
Q

cytoplasmic dynein (MT)

A

Lissencephaly

lack of rigdes and folds in brain

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16
Q

WASp/Arp activation

A

Waskott-Aldrich, low platelets, immunodeficiency

XLR

17
Q

LDL-R

A

Familial Chlosterolemia

AD

18
Q

Carnitine transporter

A

CTD

low plasma carnitine

19
Q

CPTII

A

carnitine palmitoyl transferase II.

muscle destruction, no long chain FA digestion

20
Q

Medium/Long chain acyl-CoA dehydrogenase

A

MCAD/LCAD

nonketotic hypoglycemia

21
Q

F-1-P aldolase

A

HFI

hypoglycemia after eating/drinking fructose

22
Q

1-P-uridyl transferase (GALT)

A

galactosemia

cataracts! liver disease sepsis, retardation

23
Q

glucose-6-phosphatase

A

GSD 1 Von Geirke’s

doll-like, enlarged liver

24
Q

glycogen synthetase

A

GSD 0

low glycogen stores. sweaty, hypoglycemic, enlarged liver

25
Q

F-1,6-diphosphatase

A

F-1,6-P deficiency

ketonuria, no gluconeogenesis.

26
Q

Pyruvate carboxylase

A

Lactic acidosis

noisy fast breathing, enlarged heart, weak muscles.

27
Q

N-acetylglucosamine1-phosphotransferase

A

I-cell

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

28
Q

adenosine deaminase

A

severe combined immunodeficiency (SCID)

reduced B and T cells, XLR

29
Q

HGPRT

A

Lesch-Nyhan

gouty, biting, XLR

30
Q

Phenylalanine hydroxylase (PAH)

A

Phenylketonuria (PKU)

hypopigmentation, impaired brain function, musty body odor, low BH4

can live normal lives.

31
Q

Fumarylacetoacetate (FAH)

A

Tyrosinemia 1

liver kidney damage, tyrosul compounds build up.

32
Q

branched chain alpha keto acid dehydrogenase

A

MSUD

maple syrup urine smell, ketoacidosis, failure to thrive

33
Q

Orthnithine Transcarbamylase

A

OTC deficiency.

high blood ammonia. linked to estrogen response elements. XLR

34
Q

Mfn2

A

Charcot-Marie-Tooth

no mito fusion. distal limbs effects, steppage gait, decrased tendon

AD

35
Q

Opa1

A

Autosomal Dominant Optic Atrophy

AD

inner membrane mito fusion problems

36
Q

Large Deletions of Mito DNA, including tRNAs

A

Kearns-Sayre

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

37
Q

T8993G and T899C mtDNA

A

70-90%: NARP neuropathy ataxia retinitis pigmose

90%+: MILS maternal Leighs syndrome: encephalopathy, psychomotor regression

38
Q

thymidine phosphorylase

A

MNGIE: mitochondrial neurogastrointestinal encephalomyopathy

dropping lids, wasting, digestive immotility.

39
Q

homogentisic acid oxidase

A

alkaptonuria

black pee, dark spots in eyes and cartilage

MM (3 decks)

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