Introduction Biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. We report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. With a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. Rapid treatment was life-savin...

Biotinidase deficiency is a hereditary metabolic disease with varied phenotypic expression in which there is a defect in the metabolism of biotin. The symptoms of the classic form are often neurological and in the skin, with possible sequelae such as auditory and visual disorders, and motor development and language delay. These manifestations are usually irreversible, even after treatment, whic...

Optic atrophy has often been reported in children with biotinidase deficiency. The visual prognosis is usually poor. This report is of a 6-year-old boy with an early onset of biotinidase deficiency who presented with acute profound visual loss in both eyes. Fundoscopy revealed swollen discs in both eyes, and the imaging was consistent with bilateral optic neuritis. He was treated with systemic ...

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 ...

how to cite this article: kohmanaee sh, zarkesh m, tabrizi m, hassanzadeh rad a, divshali s, dalili s. biotinidase deficiency in newborns as respiratory distress and tachypnea: a case report. iran j child neurol. spring 2015; 9(2):58-60. abstract objective biotin is a coenzyme composed of four carboxylases. it presents in amino acid catabolism, fatty acid synthesis, and gluconeogenesis. biotini...

In eukaryotic cell nuclei, DNA associates with the core histones H2A, H2B, H3 and H4 to form nucleosomal core particles. DNA binding to histones is regulated by posttranslational modifications of N-terminal tails (e.g., acetylation and methylation of histones). These modifications play important roles in the epigenetic control of chromatin structure. Recently, evidence that biotinidase and holo...

Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversible problems if therapy is delayed. If treated at birth, biotin therapy can prevent the development of symptoms as indicated by long-term outcomes....

A three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.