Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity Hospitals in Hyderabad by heel prick capillary blood collected on S&S 903 filter paper. Chromatographic (TLC and HPLC), electrophoretic (cellulose acetate and agarose) and ELISA based assays have been employed for screening of common inborn errors of metabolism. This study has shown a high prevalence of treatable Inborn errors of metabolism. Congenital hypothyroidsm is the most common disorder (1 in 1700) followed by congenital Adrenal Hyperplasia (1 in 2575) and Hyperhomocystenemia (1 in 100). Interestingly, a very high prevalence of inborn errors of metabolism to the extent of 1 in every thousand newborns was observed. The study reveals the importance of screening in India, necessitating nation wide large-scale screening.
An application of ANN for warfarin dosing improves predictability and provides safe and effective dosing.
Introduction: Diabetes Mellitus (DM) is a metabolic condition linked by the inability to produce enough insulin and/or to respond to insulin. This can lead to a number of acute and chronic health problems. In erythrocytes, transferrin is the main source of iron. Alterations in transferrin glycation affect transferrin saturation because the affinity of transferrin for Fe3+ is extremely high but it decreases progressively with increasing glycation. Aim: To investigate the influence of uncontrolled diabetes on transferrin glycation and iron metabolism. Materials and Methods: A total of 136 samples from 3 groups of HbA1c levels (<6.0% non-diabetic, 6.4-8% diabetic, >8.0%-uncontrolled DM) were studied for the correlation pattern of iron with other variables. Chi square test and student’s t-test were performed to reveal the association between serum free iron levels and other variables with DM. Results: Serum iron has shown to be depleted significantly (p=0.02) along with percentage saturation (p=0.0006) with increase in diabetic severity. No significant differences were observed in serum ferritin in controlled DM and uncontrolled samples. Total Iron Binding Capacity (TIBC) was found to be significantly increased in uncontrolled DM samples (p=0.01). Abnormal transferrin was observed uncontrolled diabetes with subsequent depletion in transferrin, which in turn results in low serum iron, lower percentage saturation and high TIBC. Conclusion: Uncontrolled diabetes affects the glycation of transferrin also thus perturbating iron metabolism. The present study emphasises the need to monitor transferrin glycation status and iron deficiency anaemia in subjects with uncontrolled diabetes.
Glutaric acidemia type 1 (GA-1, OMIM 231670) is an autosomal recessive inborn error of metabolism caused by the deficiency of glutaryl-coenzyme A (CoA) dehydrogenase with most children presenting in infancy with encephalopathy, dystonia, and macrocephaly. We present the clinical characteristics, molecular profile, and outcomes in 29 unrelated families with affected children (30 cases total). The mean age at onset of illness was 10 months (±14.58), whereas the mean age at referral for molecular diagnosis was 29.44 months (±28.11). Patients were residents of nine different states of India. Clinical presentation varied from acute encephalitis followed by neuroregression and chronic/insidious developmental delay. Neurological sequelae varied from asymptomatic (no sequelae, 2 patients) to moderate (5 patients) and severe (23 patients) sequelae. All patients underwent blood tandem mass spectrometry (TMS on dried blood spots) and/or urine gas chromatography mass spectrometry (GCMS). Neuroimaging demonstrated batwing appearance in 95% cases. Sanger's sequencing of GCDH, covering all exons and exon–intron boundaries, was performed for all patients. Variants identified include 15 novel coding variants: p.Met100Thr, p.Gly107Ser, p.Leu179Val, p.Pro217Ser, p. Phe236Leufs*107, p.Ser255Pro, p.Met266Leufs*2, p.Gln330Ter, p.Thr344Ile, p.Leu345Pro, p.Lys377Arg, p.Leu424Pro, p.Asn373Lys, p.Lys377Arg, p.Asn392Metfs*9, and nine known genetic variants such as p.Arg128Gln, p.Leu179Arg, p.Trp225Ter, p.Met339Val, p.Gly354Ser, p.Arg402Gln, p.Arg402Trp, p.His403Tyr, and p.Ala433Val (Ensembl transcript ID: ENST00000222214). Using in silico analysis, genetic variants were shown to be affecting the residues responsible for homotetramer formation of the glutaryl-CoA dehydrogenase protein. Treatment included oral carnitine, riboflavin, protein-restricted diet, lysine-deficient special formulae, and management of acute crises with intravenous glucose and hydration. However, the mortality (9/30, 27.58%) and morbidity was high in our cohort with only two patients affording the diet. Our study is the largest multicentric, genetic variant–proven series of glutaric aciduria type 1 from India till date.
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