An uncommon autosomal recessive organic acid disease is malonic aciduria. This may be easily identified and included in the NBS programmes by means of widespread use tandem mass spectrometry’s study amino acid/acylcarnitine profile using dried blood spots (DBS) for newborn screening. In Tamil Nadu, we reported first screened diagnosed with aciduria screening (NBS) early neonatal period. The pat...

background & aim: this study evaluated prevention effect of hydro-alcoholic extract of punica granatum peel ethylene glycol-induced nephrolithiasis in wistar rats. experimental: 20 male wistar rats were randomly divided into 4 equal groups. group i animals served as normal control (a) and received distilled water for 28 days. group ii to iv animals received 1% v/v ethylene glycol (eg) in d...

Vitamin B(12) and folate are two vitamins that have interdependent roles in nucleic acid synthesis. Deficiencies of either vitamin can cause megaloblastic anemia; however, inappropriate treatment of B(12) deficiency with folate can cause irreversible nerve degeneration. Inadequate folate nutrition during early pregnancy can cause neural tube defects in the developing fetus. In addition, folate ...

Haematology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK Correspondence to: A Hunt [email protected] Cite this as: BMJ 2014;349:g5226 doi: 10.1136/bmj.g5226 Vitamin B12 is an essential cofactor that is integral to methylation processes important in reactions related to DNA and cell metabolism, thus a deficiency may lead to disruption of DNA and cell metabolism and thus have serious c...

This text of the February 1998 paper which triggered a global health crisis, omits three visual figures from the original printed paper: a graph titled "urinary methylmalonic-acid excretion in patients and controls," pictures titled "endoscopic view of terminal ileum in child three and in a child with endoscopically and histologically normal ileum and colon," and "Biopsy sample from terminal il...

Elevated propionyl C3 carnitine is the most common abnormality seen in tandem mass spectrometry newborn screening profiles, with an incidence of 0.15% seen in our South Australian newborn screening programme. The most common cause for this result in our population is vitamin B12 deficiency but differential diagnoses include the inherited disorders of propionic and methylmalonic acid metabolism ...

BACKGROUND Bilateral infarcts confined to the globus pallidus are unusual and occur in conjunction with only a few disorders, including isolated methylmalonic acidemia, a heterogeneous inborn error of metabolism. On the basis of neuroradiographic features of metabolic strokes observed in a large cohort of patients with methylmalonic acidemia, we have devised a staging system for methylmalonic a...