Disorders on the Newborn Metabolic Screen

Main_Content

​​​For more information on conditions, visit the following two websites: 

• ​​​​HRSA Newborn Screening Resources
• CDC Newborn Screening Resources for Families

Core Conditions​

Core Conditions	Primary Marker	Time Critical Condition
Propionic Acidemia (PA)	C3	Yes
Methylmalonic Acidemia (methylmalonyl-CoA mutase) (MUT)	C3	Yes
Methylmalonic Acidemia (Cobalamin disorders) (MMA)	C3	​No
Isovaleric Acidemia (IVA)	C5	Yes
3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)	C5OH	​No
3-Hydroxy-3-Methylglutaric Aciduria (HMG)	C5OH	Yes
Holocarboxylase Synthetase Deficiency (MCD)	C5OH	Yes
Β-Ketothiolase Deficiency (BKT)	C5OH	Yes
Glutaric Acidemia Type I (GA-I)	C5DC	Yes
Cartnitine Uptake Defect/Carnitine Transport Defect (CUD)	C0	​No
Medium-chain Acyl-CoA Dehydrogenase Deficiency (MCAD)	C8	Yes
Very Long-chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)	C14:1	Yes
Long-chain L3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)	C16OH	Yes
Trifunctional Protein Deficiency	C16OH	Yes
Argininosuccinic Aciduria (ASA)	High ASA	Yes
Citrullinemia, Type I (CIT)	High CIT	Yes
Branched Chain Keto-Acidosis, commonly called Maple Syrup Urine Disease (MSUD)	High LEU + VAL	Yes
Homocystinuria	High MET	​No
Classical Phenylketonuria	High PHE	​No
Tyrosinemia, Type I	Succinylacetone present	​No
Primary Congenital Hypothyroidism (CH)	T4, TSH	​No
Congenital Adrenal Hyperplasia (CAH)	Elevated 17-OHP	Yes
S,S Disease (Sickle Cell Anemia)	FS	​No
S, Beta Thalassemia	FSA	​No
S, C Disease	FSC	​No
Biotinidase Deficiency	Absent BIO	​No
Cystic Fibrosis	High IRT with two disease causing variants	​No
Classical Galactosemia	GALT/Total Galactose	Yes
Glycogen Storage Disease Type II (Pompe)	Low GAA	Yes
Severe Combined Immunodeficiencies (SCID)	TREC (# of cycles required for PDR to identify TREC)	​No
Mucopolysaccharidosis Type I (MPS-I)	Low IDUA + Positive Glysosaminoglycans	​No
Mucopolysaccharidosis Type I (MPS-II)	Low I2S + Positive Glycosaminoglycans	​No
Fabry Disease (Not on RUSP)	Low GLA	​No
Spinal Muscular Atrophy (SMA)	Absent SMN1	Yes
X-linked Adrenoleukodystrophy (X-ALD)	Elevated C26	​​No

Secondary Conditions

Secondary Conditions	Primary Marker	Time Critical Condition
Methylmalonic Acidemia with homocystinuria	C3	​No
Malonic Acidemia	C3DC	​No
Isobutrylglycinuria (IBD)	C4	​No
2-Methylbutyrylglycinuria (2MBG)	C5	​No
3-Methylglutaconic Aciduria	C5OH	​No
2-Methyl-3-hydroxybutyric aciduria	C5OH	​No
Short-chain acyl-CoA dehydrogenase deficiency (SCADD)	C4	​No
Medium/short-chain L-3-hydroxyacyl-CoA Dehydrogenase Deficiency (M/SCHAD)	C4OH	​No
Glutaric Acidemia, Type II	C4, C5	Yes
Medium-chain Ketoacyl-CoA Thiolase Deficiency	Medium chains, only 1 case reported	​No
2,4 Dienoyl-CoA Reductase Deficiency	C10:2	​No
Carnitine palmitoyltransferase type I deficiency (CPT-I)	HIGH C0	​No
Carnitine palmitoyltransferase type II deficiency (CPT-II)	C16 +/-C18:1	Yes
Carnitine acylcarnitine translocase deficiency (CACT)	C16 +/-C18:1	Yes
Argininemia	HIGH ARG	​No
Citrullinemia, Type II	HIGH CIT	​No
Hypermethioninemia	HIGH MET	​No
Benign hyperphenylalaninemia	HIGH PHE	​No
Biopterin defect in cofactor biosynthesis	HIGH PHE	​No
Biopterin defect in cofactor regeneration	HIGH PHE	​No
Tyrosinemia, Type II	HIGH TYR	​No
Tyrosinemia, Type III	HIGH TYR	​No
Alpha thalassemia	Barts	​No
Hemoglobin C	FC	​No
Variant Hemoglobin	FV	​No
Persistent fetal hemoglobin or Btta Thalassemia Major	F	​No
Sickle cell trait	FAS	​No
Galactoepimerase deficiency	WNL GALT, elevated Tgal	​No
Galactokinase deficiency	WNL GALT, elevated Tgal	​No
T-cell related lymphocyte deficiencies	TREC (# of cycles required for PCR to identify TREC)	​No​ ​

Center_Content

​