American Academy of Pediatrics

TABLE 3

Metabolic Conditions Identified by Tests Listed

PAAs	P-HCY	Acylcarn	UOA	UPP	UGAA/Cr	UMPS	UOligo
Argininosuccinic aciduria^a	Cobalamin C deficiency	Cobalamin C deficiency	β-ketothiolase deficiency	Pyrimidine 5′nucleotidase superactivity	AGAT deficiency	Hurler	α-mannosidosis
Citrullinemia^a	Cobalamin D deficiency	Cobalamin D deficiency	Cobalamin A deficiency	Molybdenum cofactor type A deficiency	GAMT deficiency	Hunter	Aspartylglucosaminuria
Citrullinemia, type II^a	Cobalamin F deficiency	Cobalamin F deficiency	Cobalamin B deficiency		Creatine transporter defect	Sanfilippo A, B, C
CPS deficiency^a	Cobalamin E deficiency	Ethylmalonic encephalopathy	Cobalamin C deficiency			Sly (MPS VI)
Argininemia^a	Cobalamin G deficiency	Isovaleric acidemia^a	Cobalamin D deficiency
HHH syndrome	MTHFR deficiency^a	3-methylcrotonyl glycinuria	Cobalamin F deficiency
Maple syrup urine disease, variant	Homocystinuria	PPA^a	Ethylmalonic encephalopathy
NAGS deficiency^a		Tyrosinemia, type II	GA, type I
MTHFR deficiency^a			GA, type II
OTC deficiency^a			HMG-CoA Lyase deficiency
PKU			Holocarboxylase synthetase deficiency
PDH complex deficiency			Homocystinuria
Tyrosinemia, type II			Isovaleric acidemia^a
			3-methylcrotonyl glycinuria
			3-methylglutaconic aciduria
			MMA^a
			MHBD deficiency
			PPA^a
			SCOT deficiency
			SSADH deficiency
			Tyrosinemia, type II

PAAs	P-HCY	Acylcarn	UOA	UPP	UGAA/Cr	UMPS	UOligo
Argininosuccinic aciduria^a	Cobalamin C deficiency	Cobalamin C deficiency	β-ketothiolase deficiency	Pyrimidine 5′nucleotidase superactivity	AGAT deficiency	Hurler	α-mannosidosis
Citrullinemia^a	Cobalamin D deficiency	Cobalamin D deficiency	Cobalamin A deficiency	Molybdenum cofactor type A deficiency	GAMT deficiency	Hunter	Aspartylglucosaminuria
Citrullinemia, type II^a	Cobalamin F deficiency	Cobalamin F deficiency	Cobalamin B deficiency		Creatine transporter defect	Sanfilippo A, B, C
CPS deficiency^a	Cobalamin E deficiency	Ethylmalonic encephalopathy	Cobalamin C deficiency			Sly (MPS VI)
Argininemia^a	Cobalamin G deficiency	Isovaleric acidemia^a	Cobalamin D deficiency
HHH syndrome	MTHFR deficiency^a	3-methylcrotonyl glycinuria	Cobalamin F deficiency
Maple syrup urine disease, variant	Homocystinuria	PPA^a	Ethylmalonic encephalopathy
NAGS deficiency^a		Tyrosinemia, type II	GA, type I
MTHFR deficiency^a			GA, type II
OTC deficiency^a			HMG-CoA Lyase deficiency
PKU			Holocarboxylase synthetase deficiency
PDH complex deficiency			Homocystinuria
Tyrosinemia, type II			Isovaleric acidemia^a
			3-methylcrotonyl glycinuria
			3-methylglutaconic aciduria
			MMA^a
			MHBD deficiency
			PPA^a
			SCOT deficiency
			SSADH deficiency
			Tyrosinemia, type II

Adapted from van Karnebeek and Stockler.⁴¹

Acylcarn, acylcarnitine profile; CPS, carbamyl phosphate synthetase; GA, glutaric acidemia; HHH, hyperornithinemia-hyperammonemia-homocitrullinuria; HMG-CoA, 3-hydroxy-3-methylglutaryl-coenzyme A; MHBD, 2-methyl-3-hydroxybutyryl CoA dehydrogenase; MMA, methylmalonic acidemia; MTHFR, methylenetetrahydrofolate reductase; NAGS, N-acetylglutamate synthase; OTC, ornithine transcarbamylase; PAA, plasma amino acids; PDH, pyruvate dehydrogenase; P-HCY, plasma homocysteine; PKU; phenylketonuria; PPA, propionic acid; SCOT, succinyl-CoA:3-ketoacid CoA transferase; SSADH, succinic semialdehyde dehydrogenase; UGAA/creat; urine guanidino acid/creatine metabolites; UMPS, urine mucopolysaccharides qualitative screen (glycosaminoglycans); UOA, urine organic acids; UOGS, urine oligosaccharides; UPP, urine purines and pyrimidines.

Late-onset form of condition listed; some conditions are identified by more than 1 metabolic test.

View Large

This Feature Is Available To Subscribers Only