MMA	Methylmalonic academia
cblC-MMA	Methylmalonic academia, Cobalamin C defect
cblA-MMA	Methylmalonic acidemia, Cobalamin A defect
PCD	Primary carnitine deficiency
PKU	Phenylketonuria
SCADD	Short chain acyl-CoA dehydrogenase deficiency
IBD	Isobutyryl-CoA dehydrogenase deficiency
NICCD	Citrin deficiency
MCAD	Medium-chain acyl-CoA dehydrogenase deficiency
CPTII	Carnitine palmitoyltransferase II deficiency
MSUD	Maple syrup urine disease
MSUD (type II)	Maple syrup urine disease, type II
MADD	Multiple acyl-CoA dehydrogenase deficiency
OTCD	Ornithine transcarbamylase deficiency
SH	Shanghai Xinhua Hospital
GZ	Guangzhou Women and Children’s Medical Center
JN	Jinan Maternal and Child Health Care Hospital
SJZ	Shijiazhuang Maternal and Child Health Care Hospital
CQ	Chongqing Maternal and Child Health Care Hospital
YN	First People’s Hospital of Yunnan Province
NMG	Inner Mongolia Maternal and Child Health Care Hospital
HN	Hainan Women and Children’s Medical Center
P	Pathogenic
LP	Likely pathogenic
VUS	Variant of uncertain significance or unclassified
Het	Heterozygous
Hom	Homozygous
AR	Autosomal recessive
NBS	Newborn screening
NGS	Next-generation sequencing
IEMs	Inborn errors of metabolism
MS/MS	Tandem mass spectrometry
DBS	Dried blood spots
PPV	Positive predictive value