Abbreviation	Full Form	Category
e.g.,	exempli gratia (for example)	Latin Abbreviation
AA	Amino Acid/Amino Acidopathy	Clinical/Diagnostic
AAP	American Academy of Pediatrics	Organization
AAV	Adeno-Associated Virus	Treatment/Therapy
ACLF	Acute-on-Chronic Liver Failure	Clinical/Diagnostic
ACMG	American College of Medical Genetics and Genomics	Organization
AHP	Acute Hepatic Porphyria	Clinical/Diagnostic
AI	Artificial Intelligence	Technology/Innovation
AI/ML	Artificial Intelligence/Machine Learning	Technology/Innovation
AMSTAR-2	A MeaSurement Tool to Assess systematic Reviews-2	Methodology/QA
AUC	Area Under the Curve	Statistical
BMI	Body Mass Index	Clinical/Diagnostic
BMT	Bone Marrow Transplantation	Treatment/Therapy
CDG	Congenital Disorders of Glycosylation	Clinical/Diagnostic
CI	Confidence Interval	Statistical
CNS	Central Nervous System	Clinical/Diagnostic
CoA	Coenzyme A	Molecular/Biochemical
CPT	Carnitine Palmitoyltransferase	Clinical/Diagnostic
CSF	Cerebrospinal Fluid	Clinical/Diagnostic
CT	Computed Tomography	Medical Imaging/Tests
DD	Developmental Delay	Clinical/Diagnostic
DL	Deep Learning	Technology/Innovation
DNA	Deoxyribonucleic Acid	Molecular/Biochemical
DOI	Digital Object Identifier	Other
DOR	Diagnostic Odds Ratio	Statistical
EEG	Electroencephalography	Medical Imaging/Tests
HER	Electronic Health Record	Technology/Innovation
EMG	Electromyography	Medical Imaging/Tests
ERT	Enzyme Replacement Therapy	Treatment/Therapy
EU	European Union	Other
FAO	Fatty Acid Oxidation	Clinical/Diagnostic
FDA	Food and Drug Administration	Organization
GA-I	Glutaric Aciduria Type I	Clinical/Diagnostic
GC-MS	Gas Chromatography–Mass Spectrometry	Molecular/Biochemical
GRADE	Grading of Recommendations Assessment, Development and Evaluation	Methodology/QA
GSD	Glycogen Storage Disease	Clinical/Diagnostic
GT	Gene Therapy	Treatment/Therapy
HGMD	Human Gene Mutation Database	Molecular/Biochemical
HPLC	High-Performance Liquid Chromatography	Molecular/Biochemical
HR	Hazard Ratio	Statistical
HRMS	High-Resolution Mass Spectrometry	Molecular/Biochemical
HSCT	Hematopoietic Stem Cell Transplantation	Treatment/Therapy
ICIMD	International Classification of Inherited Metabolic Disorders	Methodology/QA
ID	Intellectual Disability	Clinical/Diagnostic
i.e.,	id est (that is)	Latin Abbreviation
IEM	Inborn Error of Metabolism	Clinical/Diagnostic
IVA	Isovaleric Acidemia	Clinical/Diagnostic
LCHAD	Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	Clinical/Diagnostic
LC-MS	Liquid Chromatography–Mass Spectrometry	Molecular/Biochemical
LC-MS/MS	Liquid Chromatography–Tandem Mass Spectrometry	Molecular/Biochemical
LLM	Large Language Model	Technology/Innovation
LSD	Lysosomal Storage Disease	Clinical/Diagnostic
MCAD	Medium-Chain Acyl-CoA Dehydrogenase Deficiency	Clinical/Diagnostic
ML	Machine Learning	Technology/Innovation
MMA	Methylmalonic Acidemia	Clinical/Diagnostic
MPS	Mucopolysaccharidosis	Clinical/Diagnostic
MRI	Magnetic Resonance Imaging	Medical Imaging/Tests
MS/MS	Tandem Mass Spectrometry	Clinical/Diagnostic
MSUD	Maple Syrup Urine Disease	Clinical/Diagnostic
N/A	Not Applicable	Other
NADH	Nicotinamide Adenine Dinucleotide (Reduced)	Molecular/Biochemical
NBS	Newborn Screening	Clinical/Diagnostic
NEJM	New England Journal of Medicine	Other
NGS	Next-Generation Sequencing	Clinical/Diagnostic
NICCD	Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency	Clinical/Diagnostic
NICE	National Institute for Health and Care Excellence	Organization
NMR	Nuclear Magnetic Resonance	Molecular/Biochemical
NOS	Newcastle–Ottawa Scale	Methodology/QA
NPV	Negative Predictive Value	Statistical
OA	Organic Acidemia	Clinical/Diagnostic
OMIM	Online Mendelian Inheritance in Man	Molecular/Biochemical
OR	Odds Ratio	Statistical
PA	Propionic Acidemia	Clinical/Diagnostic
PCR	Polymerase Chain Reaction	Medical Imaging/Tests
PKU	Phenylketonuria	Clinical/Diagnostic
PPV	Positive Predictive Value	Statistical
PRISMA	Preferred Reporting Items for Systematic Reviews and Meta-Analyses	Methodology/QA
QALY	Quality-Adjusted Life Year	Other
QoL	Quality of Life	Other
QUADAS-2	Quality Assessment of Diagnostic Accuracy Studies-2	Methodology/QA
RCT	Randomized Controlled Trial	Methodology/QA
RNA	Ribonucleic Acid	Molecular/Biochemical
ROC	Received Operator Curve	Statistical
RR	Relative Risk	Statistical
SD	Standard Deviation	Statistical
SE	Standard Error	Statistical
SROC	Summary Receiver Operating Characteristic	Statistical
SSIEM	Society for the Study of Inborn Errors of Metabolism	Organization
et al.	et alii (and others)	Latin Abbreviation
TCA	Tricarboxylic Acid (Krebs Cycle)	Molecular/Biochemical
UCD	Urea Cycle Disorder	Clinical/Diagnostic
UK	United Kingdom	Other
USA	United States of America	Other
VLCAD	Very Long-Chain Acyl-CoA Dehydrogenase Deficiency	Clinical/Diagnostic
vs.	Versus	Latin Abbreviation
VUS	Variant of Uncertain Significance	Clinical/Diagnostic
WES	Whole-Exome Sequencing	Clinical/Diagnostic
WGS	Whole-Genome Sequencing	Clinical/Diagnostic
WHO	World Health Organization	Organization