Babies are not little adults. This frequently repeated statement implies that to develop accurate diagnostic methods to identify potentially catastrophic disorders, it is not sufficient to just wait until permanent changes have occurred and are clearly recognized by physicians in clinical practice. This is the position of many organizations that advocate on behalf of children [1]. Moreover, in ...

BACKGROUND Developments in screening technology and increased understanding of the natural history and treatment of inborn errors of metabolism (IEMs) have produced pressure to extend neonatal screening programmes. This review aims to assess the evidence for the appropriateness of such programmes. METHODS A formal systematic literature review was conducted. Exclusion and inclusion criteria we...

Biotinidase deficiency (BTD) is an autosomal recessive metabolic disorder characterized by neurodevelopmental and cutaneous disorders. Individuals with BTD have either homozygous or compound heterozygous variants of biotinidase (BT) enzyme. We aimed to analyse the pattern and outcome of investigations for BTD among children and young people in a Scottish NHS Board. We retrospectively analysed t...

The natural amide bond found in all biotinylated proteins has been replaced with a triazole through CuAAC reaction of an alkynyl biotin derivative. The resultant triazole-linked adducts are shown to be highly resistant to the ubiquitous hydrolytic enzyme biotinidase and to bind avidin with dissociation constants in the low pM range. Application of this strategy to the production of a series of ...

Pyruvate carboxylase (PC) is a biotin-containing mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, thereby being involved in gluconeogenesis and in energy production through replenishment of the tricarboxylic acid (TCA) cycle with oxaloacetate. PC deficiency is a very rare metabolic disorder. We report on a new patient affected by the moderate form (the American ty...