NGLY1-CDDG: report of two cases from India and brief review of literature.

N-glycanase1 (NGLY1) deficiency, an autosomal recessive disorder identified a decade ago, is categorized as a congenital disorder of deglycosylation (CDDG). This disorder arises from bi-allelic variants in the gene, leading to impaired protein deglycosylation. Phenotypically, individuals with deficiency present with intellectual disability, movement disorders, liver dysfunction, muscular hypotonia, etc.

Clinical utility of thiopurine metabolite levels in monitoring patients with inflammatory bowel disease: A single-centre retrospective study.

Background: Therapeutic drug monitoring (TDM) of thiopurines is crucial for optimizing inflammatory bowel disease (IBD) treatment. Despite its benefits, data on thiopurine levels in Indian IBD patients is limited. Thus, we assessed 6-thioguanine nucleotide (6-TGN) and 6-methyl mercaptopurine (6-MMP) levels in patients on thiopurine therapy and evaluated their correlation with dosage and clinical outcome.

Cerebrospinal Fluid Biogenic Monoamine Analysis for Diagnosis of Primary Neurotransmitter Disorders.

Biogenic amine neurotransmitters metabolism is a multistep pathway with pterin and pyridoxal phosphate (vitamin B6) as cofactors. A defect in biogenic amine and cofactor metabolism and vesicular transporters result in a primary neurotransmitter disorders. These are a well-recognized groups of inherited disorders and often present with features overlapping with other neurological conditions.

Optimization of infliximab therapy in inflammatory bowel disease using a dashboard approach-an Indian experience.

Purpose: Infliximab (IFX) therapy in inflammatory bowel disease (IBD) is associated with loss of response in half the patients, due to complex pharmacokinetic and immunological factors. Dashboard's Bayesian algorithms use information from model and individual multivariate determinants of IFX concentration and can predict dose and dosing interval.

Aim: To compare measured IFX concentrations in our laboratory with values predicted by iDose dashboard system and report its efficacy in managing patients not responding to conventional dosing schedule.