Metabolism Ann

1 INTRODUCTION DWM is a rare congenital neurological anomaly that affects the development of cerebellum (Stambolliu et al., 2017). While the majority of cases occur sporadically, there are also recognized genetic etiologies.

1 INTRODUCTION Propionic acidemia (PA) is an autosomal recessive disorder due to disease-causing variants in the PCCA or PCCB genes. It results in a deficiency of the propionyl-CoA carboxylase enzyme (PCC) function, leading to the accumulation of metabolites from branched-chain amino acid catabolism (Baumgartner et al., 2014). PA impacts the nervous, gastrointestinal, hematopoietic, cardiovascular, and renal systems, with serious acute and chronic presentations (Forny et al., 2021).

1 INTRODUCTION Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error of metabolism characterized by high levels of plasma and cerebrospinal fluid (CSF) glycine, with clinical features including lethargy, hypotonia, seizures, developmental arrest, and often early death.