Metabolite -> Disease Flashcards
UOA: methylmalonic acid, 3-OH-propionate, 2-methylcitrate
Methylmalonic acidemia
UOA: 3-OH-propionate, 2-methylcitrate, propionylglycine
Propionic acidemia
UOA: Isovalerylglycine
Isovaleric acidemia
UOA: 3-methylcrotonylglycine, 3-OH-isovaleric acid
3-MCC deficiency (benign)
UOA: glutamic acid, 3-OH-glutaric acid
Glutaric acidemia type 1
UOA: 2-Me-3-OH-butyrate, tiglyglycine
Ketothiolase deficiency (ketoacidosis)
UOA: Malonic acid methylmalonic acid
Malonic acidemia (OA sx)
UOA: N-acetylaspartic acid
Canavan disease (leukodystrophy)
UOA: 4-OH-butyric acid
Succinc semialdehyde dehydrogenase deficiency (encephalopathy, DD, seizures)
ACP: C3 (propionylcarnitine)
PA, MMA
ACP: C0 (carnitine)
CPT1 deficiency
ACP: C4
Butyrylcarnitine -> SCADD, isobutyrylcarnitine -> IBDD
ACP: C5
Isovalerylcarnitine -> IVA, methylbutyrylcarnitine -> SBCADD
ACP: C5-OH
Organic acidemias w/hypoketosis: HMG-CoA lyase deficiency or 3-MCC def (Leu metab), BKT deficiency (Ile metab) & HCS deficiency (biotin disorders - brain & skin)
ACP: C5-DC
Glutaric acidemia type 1
ACP: C6, 8, 10
MCADD
ACP: C14, 14:1
VLCADD
ACP: C16
CPT2 deficiency, CACT deficiency
ACP: C16-OH
LCHADD, TFP deficiency (FAODs)
GAGs: chondroitin sulfate, dermatan sulfate, heparin sulfate
MPS I/Hurler, MPS II/Hunter, or MPS III/Sanfilippo
GAGs: keratan sulfate, chondroitan sulfate
MPS IV, Morquio
PAA: High Gln, low Cit
NAGS deficiency, CPS1 deficiency, OTC deficiency (w/high urine rotate)
PAA: High Gln, high Cit
Citrullinemia type I, II
PAA: High argininosuccinate, high Cit
Argininosuccinic aciduria/ASL def
PAA: High Arg
UAA: High Cys, Orn, Arg, Lys, Orotate
Arginase deficiency
UOA: 2-ketoisocaproic acid, 2-keto,3-Me-valeric acid
MSUD
UOA: homogentisic acid
Alkaptonuria
Specialized testing for MSUD
Alloisoleucine, plasma
Specialized testing for low-excretory GA-1
Urine glutarylcarnitine (C5-DC)
Specialized testing for sulfite oxidase deficiency
S-sulfocysteine, plasma; high taurine, high thiosulfate
