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. 2025 Mar 28;15(4):235. doi: 10.3390/metabo15040235
IEM Inborn Errors of Metabolism
MetS Metabolic Syndrome
BMI Body Mass Index
GH Growth Hormone
IGF1 Insulin-like growth factor 1
FSH Follicle Stimulating Hormone
LH Luteinizing Hormone
ACTH Adrenocorticotropic Hormone
T2DM Type 2 Diabetes Mellitus
PKU Phenylketonuria
MSUD Maple Syrup Urine Disease
PA Propionic Acidemia
MMA Methylmalonic Acidemia
BCKD Branched-Chain Ketoacid Dehydrogenase
BCAA Branched-chain amino acids
TCA-cycle Tricarboxylic Acid Cycle
MCAD Medium-Chain Acyl-CoA Dehydrogenase deficiency
VLCAD Very Long-ChainAcyl-CoA Dehydrogenase deficiency
LCHAD Long-Chain 3-hydroxyacyl-CoA Dehydrogenase deficiency
CPT1 Carnitine Palmityoltransferase 1
CPT2 Carnitine Palmityoltransferase 2
CACT Carnitine-Acylcarnitine Translocase
GSD Glycogen Storage Diseases
CDG Congenital Disorders of Glycosylation
NEFA Non-Esterified Fatty Acids
POI Premature Ovarian Insufficiency
HRT Hormone Replacement Therapy
ARS2 Aminoacyl-tRNA syntethase 2 deficiency
LSD Lysosomal Storage Disease
PP Precocious Puberty
ROS Reactive Oxygen Species
IRS Insulin Receptor Substrates
mTORC1 MechanisticTarget of Rapamycin complex 1
JNK c-Jun N-Terminal Kinase
MAPK p38 Mitogen-Activated Protein Kinase