3-HMGD	3-hydroxy-3-methyl-glutaryl-CoA lyase deficiency (OMIM ID: 246450)
3-MCCD	3-methylcrotonyl-CoA-carboxylase deficiency (OMIM IDs: 210200, 210210)
3-MGCHD	3-methylglutaconyl-CoA hydratase deficiency (OMIM ID: 250950)
ALD	adrenoleucodystrophy (OMIM ID: 300100)
ARG	hyperargininemia due to arginase deficiency (OMIM ID: 207800)
ASLD	argininosuccinate lyase deficiency (OMIM ID: 207900)
BETA-KTD	beta-ketothiolase deficiency (OMIM ID: 203750)
BH4D	biopterin cofactor deficiencies (OMIM IDs 233910, 261530, 261640)
BIOTD	biotinidase deficiency (OMIM ID: 253260)
CACTD	carnitine/acylcarnitine translocase deficiency (OMIM ID: 212138)
CAH	congenital adrenal hyperplasia (OMIM ID: 201910
CF	cystic fibrosis (OMIM ID: 219700)
CFTR	cystic fibrosis transmembrane conductance regulator
CH	congenital hypothyroidism
CIT	citrullinemia type 1 due to arginosuccinate synthase deficiency (OMIM ID: 215700)
CPT1D	carnitine palmitoyl transferase 1 deficiency (OMIM ID: 600528)
CPT2D	carnitine palmitoyl transferase 2 deficiency (OMIM IDs: 255110, 600649, 608836)
CTD	carnitine transporter deficiency (OMIM ID: 600528)
eNBS	expanded newborn screening
FAOD	fatty acid oxidation disease
GA1	glutaric aciduria type 1 due to glutaryl-CoA dehydrogenase deficiency (OMIM ID: 231670)
GALT	galactosemia due to galactose 1-phosphate uridyl transferase deficiency (OMIM ID: 230400)
IEM	inborn error of metabolism
HCU-CBS	homocystinuria due to cystathionine-beta-synthase deficiency (OMIM ID: 236200)
HHH	hyperornithinemia, hyperammonemia, homocitrullinuria due to ornithine translocase deficiency (OMIM ID: 238970)
HLCSD	holocarboxylase synthase deficiency (OMIM ID: 253270)
HPA	non-PKU mild hyperphenylalaninemia (OMIM ID: 261660)
HT1	hepatorenal tyrosinemia (type 1) due to fumarylacetoacetase deficiency (OMIM ID: 276700)
IVA	isovaleric acidemia due to isovaleryl-CoA dehydrogenase deficiency (OMIM ID: 243500)
LCHADD	long-chain 3-hydroxy acyl-CoA dehydrogenase deficiency (OMIM ID 609016)
MADD	multiple acyl-CoA dehydrogenase deficiency (OMIM ID: 231680)
MCADD	medium-chain acyl-CoA dehydrogenase deficiency (OMIM ID: 201450)
MMA	methylmalonic aciduria (many OMIM IDs, most relevant here are: 251000, 251100, 251110);
MPS-1H	mucopolysaccharidosis type 1H (OMIM ID: 607014)
MS/MS	tandem mass spectrometry
M/SCHADD	medium/-short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (OMIM ID: 231530)
MSUD	classic maple syrup urine disease due to branched-chain alfa-keto acid dehydrogenase deficiency (OMIM ID: 248600)
NBS	newborn screening
NGS	next generation sequencing
PA	propionic acidemia due to propionyl-CoA carboxylase deficiency (OMIM ID: 606054)
PKU	classical phenylketonuria due to phenylalanine hydroxylase deficiency (OMIM ID: 261660)
PPV	positive predictive value
SCADD	short-chain acyl-CoA dehydrogenase deficiency (OMIM ID: 201470)
SCID	severe combined immunodeficiency
SSI	Statens Serum Institute
TPD	trifunctional protein deficiency (OMIM ID: 609015);
VLCADD	very long-chain acyl-CoA dehydrogenase deficiency (OMIM ID: 201475)
WGS	whole genome sequencing