Neurometabolic diseases are a group of individually rare but numerous and heterogeneous
genetic diseases best known to paediatricians. The more recently reported adult forms may …

Introduction Homocysteine is a sulfur-containing amino acid formed in the intermediary
metabolism of methionine. Amino acid metabolism and heme biosynthesis pathways are …

Antithrombin resistance is a rare subtype of hereditary thrombophilia caused by prothrombin
gene variants, leading to thrombotic disorders. Recently, the Prothrombin Belgrade variant …

The gasotransmitter hydrogen sulfide (H2S) produced by the transsulfuration pathway (TSP)
is an important biological mediator, involved in many physiological and pathological …

India, resembling other developing nations, is confronting a hastening demographic switch
to non-communicable diseases. Inborn errors of metabolism (IEM) constitute a varied …

Givosiran is a subcutaneously administered, liver‐targeted RNA interference (RNAi)
therapeutic that has been approved for treating acute hepatic porphyria (AHP). Elevation in …

The recreational use of nitrous oxide as laughing gas becomes a real public health issue
among adolescents and young adults. Chronic use is deleterious and can lead to severe …

Purpose: Serine (Ser) and glycine (Gly) levels were reported to differ between Macular
telangiectasia type 2 (MacTel) patients compared to healthy controls. Since they are closely …

Methylmalonic acidemia (MMA), propionic acidemia (PA), and cobalamin C deficiency
(cblC) share a defect in propionic acid metabolism. In addition, cblC is also involved in the …

Hyperhomocysteinemia (Hcy) is an independent risk factor for cardiovascular diseases
(CVD) and associated with primary causes of mortality and morbidity throughout the world …