Nonketotic hyperglycinemia (NKH) is a rare inborn error of glycine metabolism that is
characterized by the accumulation of glycine in all tissues, especially in the central nervous …

Congenital lactic acidosis (CLA) is a rare condition in most instances due to a range of
inborn errors of metabolism that result in defective mitochondrial function. Even though the …

Abstract Glycine encephalopathy (MIM# 605899) is an autosomal recessive inborn error of
metabolism caused by pathogenic variants in three genes GLDC, AMT, GCSH encoding …

Monogenetic diseases provide unique opportunity for studying complex, clinical states that
underlie neurological severity. Loss of glycine decarboxylase (GLDC) can severely impact …

The pathophysiology of nonketotic hyperglycinemia (NKH), a rare neuro-metabolic disorder
associated with severe brain malformations and life-threatening neurological manifestations …

Nonketotic hyperglycinemia is an autosomal recessive inborn error of glycine metabolism,
characterized by deficient activity of the glycine cleavage enzyme system. Classic nonketotic …

Acute myeloid leukemia (AML) is a blood system malignancy where sirtuin 5 (SIRT5) is
abnormally expressed in AML cell lines. This study aimed to investigate the SIRT5 effects on …

Hundreds of mutations in a single gene result in rare diseases, but why mutations induce
severe or attenuated states remains poorly understood. Defect in glycine decarboxylase …

Background: Nonketotic hyperglycinemia is a metabolic disease with autosomal recessive
inheritance due to the glycine cleavage system (GCS) defect leading to the accumulation of …

Background Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive
disorder of glycine metabolism with a very poor prognosis. Currently, few studies have …