Treatment of metabolic disease aims to restore homeostasis, where possible. This can be achieved in a number of ways. For disorders of intermediary metabolism, treatment involves a thorough understanding of the disorder and the pathogenesis of the deleterious effects The various approaches indicated may involve substrate restriction, replacement of deficient products, removal of toxic metabolit...

Soon after Guthrie (1) expanded newborn screening by adding galactosemia, maple syrup urine disease (MSUD), and homocystinuria to the original screening for phenylketonuria (PKU), he realized that screening would be more efficient and comprehensive if a single assay could be used to detect several disorders rather than the system of a separate bacterial assay for each disorder that he had devel...

3D printing (3DP), also known as additive manufacturing, is a fabrication technology allowing the precise of personalised drug-loaded products.3DP has achieved various successes, including FDA-approved drug product Spritam®. However, new underutilised, with promise and on-demand application remaining at proof-of-concept stage.ML potential to save costs streamline 3DP process by making accurate ...

BCAAs, especially leucine, were shown in the mid-1970s to be potent regulators of protein turnover (1–3). In the mid1980s BCAAs were also shown to compete with other large neutral amino acids (LNAAs) (4), suggesting that raising the blood concentration of BCAA would limit the formation of false neurotransmitters within the brain. Although these findings would seem to have provided an attractive...

in 1902, well known archibald garrod applied mendels gene concept to human characters. he opened a new window in understanding the etiology of metabolic disorders. he proposed biochemical changes as the etiology of metabolic disorders in his series of papers inborn errors of metabolism (1906). after establishing prenatal diagnosis facilities for the detection of chromosomal abnormalities in our...

Early detection and management of inborn errors of metabolism (IEMs) can improve the affected infant’s prognosis. Initial screening tests can provide a general overview of the infant’s metabolic status and suggest potential IEMs. Among the clinical findings seen in many IEMs are encephalopathy, hypoglycemia, jaundice and liver disease, cardiac arrhythmias, cardiomyopathy, hypotonia, dysmorphic ...

Inherited metabolic diseases are rare but may cause severe damages if not cared for in time. A neonatal screening program, including a first quick test to all newborns and a second accurate test for patients with positive results, is being planned in Veneto region, northeast Italy. A simulation model describing all operations has been built and implemented with the scope of giving suitable dime...

The size and extent of four Neurospora crassa duplications, Dp(AR17), Dp(IBj5), Dp(OY329) and Dp(B362i) was determined by testing the coverage of RFLP markers. The first three duplications were all > ~350 kb and have been shown in earlier studies to act as dominant suppressors of repeat-induced point mutation (RIP) in gene-sized duplications, possibly via titration of the RIP machinery. Dp(B362...