Glossary of Newborn Screening Acronyms and Abbreviations

Clinical Issues and Considerations

17-OHP	17-hydroxyprogesterone
3-MMC	3-Methylcrontonyl-CoA carboxylase deficiency
ABR	Auditory brainstem response
ACTH	Adrenocorticotropic hormone
AIDS	Acquired immune deficiency syndrome
ASA	Arginiosuccinic lyase deficiency
AZT	Zidovudine
BCKD	Branched-chain ketoacid dehydrogenase
BIA	Bacterial inhibition assay
ß-KT	Mitochondrial acetoacetyl-CoA thiolase deficiency
C	Centigrade
CAH	Congenital adrenal hyperplasia
CAT	Carnitine/acylcarnitine translocase deficiency
CBAVD	Congenital bilateral absence of the vas deferens
CBC	Complete blood count
CC	Homozygous hemoglobin C
CF	Cystic fibrosis
CFTR	Cystic fibrosis transmembrane regulator
CoA	Coenzyme A
CORN	Council of Regional Networks for Genetic Services
CPT-I	Carnitine palmitoyl transferase deficiency Type I
CPT-II	Carnitine palmitoyl transferase deficiency Type II
Dl	Deciliter
DNA	Deoxyribonucleic acid
DOH	Department of Health
E3	Dihydrolipoyl dehydrogenase
ELISA	Enzyme-linked immunosorbent assay
FT₄	Free thyroxine
G	Gram
GA-I	Glutaric aciduria Type I/Glutaryl-CoA dehydrogenase deficiency Type I
GA-II	Glutaric acidemia Type II/Multiple acyl-CoA dehydrogenase deficiency
GALT	Galactose-1-phosphate uridylyl transferase
Gal-1-P	Galactose-1-phosphate
GENES	The Genetic Network of New York, Puerto Rico and the Virgin Islands
Hb	Hemoglobin
HbsAg	Hepatitis B surface antigen
HHH	Hyperammonemia, hyperornithinemia, homocitrullinuria
HIV	Human immunodeficiency virus
HMG	3-Hydroxy-3-methlyglutaryl-CoA lyase deficiency
Hyperphe	Hyperphenylalaninemia
ICHAP	Infant and Child Health Assessment Program
ID	Identification
IMD	Inherited metabolic disorders
IQ	Intelligence quotient
IRT	Immunoreactive trypsinogen
IVA	Isovaleric acidemia/Isovaleryl-CoA dehydrogenase deficiency
Kg	Kilogram
L	Liter
L-T₄	Levothyroxine
LCAD	Long-chain acyl-CoA dehydrogenase deficiency
LCHAD	Long-chain hydroxy acyl-CoA dehydrogenase deficiency/3-Hydroxyacyl CoA dehydrogenase deficiency
MCADD	Medium-chain acyl-CoA dehydrogenase deficiency
MCV	Mean corpuscular volume
Mg	Milligram
Ml	Milliliter
MMA	Methlymalonic acidemia
MS/MS	Tandem mass spectrometry
MSUD	Maple syrup urine disease
NCCLS	National Committee for Clinical Laboratory Standards
Ng	Nanogram
OAE	Otoacoustic emissions
PA	Propionic acidemia/Propionyl-CoA carboxylase deficiency
PAH	Phenylalanine hydroxylase
Phe	Phenylalanine
PKU	Phenylketonuria
RT₃U	Triiodothyronine resin uptake
SC	Heterozygous hemoglobin S and hemoglobin C
SCAC	Sickle Cell Advisory Committee of GENES
SCAD	Short chain acyl-CoA dehydrogenase deficiency
SS	Homozygous hemoglobin S/sickle cell disease
SIDS	Sudden infant death syndrome
T₃	Triiodothyronine
T₄	Thyroxine
TBG	Thyroxine binding globulin
TLC	Thin layer chromatography
TPN	Total parenteral nutrition
TRH	Thyrotropin-releasing hormone
TSH	Thyroid stimulating hormone, thyrotropin
VLCAD	Very long-chain acyl-CoA dehydrogenase deficiency
µg	Microgram
µmol	Micromole
µU	Microunits

The information contained in this section does not constitute the endorsement of any specific state policy or procedure by the March of Dimes. Content is based on the New York State Department of Health manual “Newborn Screening in New York State: A Guide for Health Professionals,” provided by the Newborn Screening Program, Wadsworth Center, New York State Department of Health. The material has been modified for a national audience, and additional information has been added by the March of Dimes.

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