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...

how to cite this article: ahmadabadi f. neurometabolic registry site in iran. iran j child neurol autumn 2012; 6:4 (suppl. 1): 21. pls see pdf.

how to cite this article: najafi r, hashemipour m, mostofizadeh n, ghazavi mr, nasiri j, shahsanai a, famori f, najafi f, moafi m. demographic and clinical findings in pediatric patients affected by organic acidemia. iran j child neurol. spring 2016; 10(2): 74-81. abstract objective metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and...

background: h-reflex is a valuable electrophysiological technique for assessing nerve conduction through entire length of afferent and efferent pathways, especially nerve roots and proximal segments of peripheral nerves. the aim of this study was to investigate the relation between normal values of flexor carpi radialis (fcr) h-reflex latency, upper limb length and age in normal subjects, and t...

1. Delineate features of a medical history that should raise suspicion for an inborn error of metabolism. 2. Describe common ocular findings associated with inborn errors of metabolism. 3. List the primary clinical findings of inborn errors of metabolism associated with encephalopathy without metabolic acidosis. 4. Delineate the categories of inborn errors of metabolism associated with encephal...