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AHG2 > Metabolite -> Disease > Flashcards

Metabolite -> Disease Flashcards

1
Q

UOA: methylmalonic acid, 3-OH-propionate, 2-methylcitrate

A

Methylmalonic acidemia

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2
Q

UOA: 3-OH-propionate, 2-methylcitrate, propionylglycine

A

Propionic acidemia

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3
Q

UOA: Isovalerylglycine

A

Isovaleric acidemia

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4
Q

UOA: 3-methylcrotonylglycine, 3-OH-isovaleric acid

A

3-MCC deficiency (benign)

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5
Q

UOA: glutamic acid, 3-OH-glutaric acid

A

Glutaric acidemia type 1

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6
Q

UOA: 2-Me-3-OH-butyrate, tiglyglycine

A

Ketothiolase deficiency (ketoacidosis)

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7
Q

UOA: Malonic acid methylmalonic acid

A

Malonic acidemia (OA sx)

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8
Q

UOA: N-acetylaspartic acid

A

Canavan disease (leukodystrophy)

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9
Q

UOA: 4-OH-butyric acid

A

Succinc semialdehyde dehydrogenase deficiency (encephalopathy, DD, seizures)

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10
Q

ACP: C3 (propionylcarnitine)

A

PA, MMA

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11
Q

ACP: C0 (carnitine)

A

CPT1 deficiency

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12
Q

ACP: C4

A

Butyrylcarnitine -> SCADD, isobutyrylcarnitine -> IBDD

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13
Q

ACP: C5

A

Isovalerylcarnitine -> IVA, methylbutyrylcarnitine -> SBCADD

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14
Q

ACP: C5-OH

A

Organic acidemias w/hypoketosis: HMG-CoA lyase deficiency or 3-MCC def (Leu metab), BKT deficiency (Ile metab) & HCS deficiency (biotin disorders - brain & skin)

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15
Q

ACP: C5-DC

A

Glutaric acidemia type 1

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16
Q

ACP: C6, 8, 10

A

MCADD

17
Q

ACP: C14, 14:1

A

VLCADD

18
Q

ACP: C16

A

CPT2 deficiency, CACT deficiency

19
Q

ACP: C16-OH

A

LCHADD, TFP deficiency (FAODs)

20
Q

GAGs: chondroitin sulfate, dermatan sulfate, heparin sulfate

A

MPS I/Hurler, MPS II/Hunter, or MPS III/Sanfilippo

21
Q

GAGs: keratan sulfate, chondroitan sulfate

A

MPS IV, Morquio

22
Q

PAA: High Gln, low Cit

A

NAGS deficiency, CPS1 deficiency, OTC deficiency (w/high urine rotate)

23
Q

PAA: High Gln, high Cit

A

Citrullinemia type I, II

24
Q

PAA: High argininosuccinate, high Cit

A

Argininosuccinic aciduria/ASL def

25
Q

PAA: High Arg
UAA: High Cys, Orn, Arg, Lys, Orotate

A

Arginase deficiency

26
Q

UOA: 2-ketoisocaproic acid, 2-keto,3-Me-valeric acid

A

MSUD

27
Q

UOA: homogentisic acid

A

Alkaptonuria

28
Q

Specialized testing for MSUD

A

Alloisoleucine, plasma

29
Q

Specialized testing for low-excretory GA-1

A

Urine glutarylcarnitine (C5-DC)

30
Q

Specialized testing for sulfite oxidase deficiency

A

S-sulfocysteine, plasma; high taurine, high thiosulfate

AHG2 (12 decks)

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