An adenine-to-guanine mutation at nucleotide position (np) 3243 in the mitochondrial tRNALeu(UUR) gene is closely associated with various clinical phenotypes of diabetes mellitus. Because the mutation creates a new restriction site for the restriction enzyme ApaI, the mutation is usually detected and quantified by ApaI cleavage of the PCR products including np 3243. The sensitivity of the conve...

Dr. Elcio Juliato Piovesan – Hospital de Clínicas da UFPR Rua General Carneiro 181 / 12 andar / Sala 1236 80060-900 Curitiba PR Brasil. E-mail: [email protected] Migraine is a common episodic headache disorder characterized by attacks consisting of various combinations of headache, neurologic, gastrointestinal and autonomic symptoms. Autonomic symptoms, such as a cold feeling, increase...

DNA studies in patients with Kearns‑Sayre syndrome and chronic progressive external ophthalmoplegia. We appreciate the readers' interest and their comprehensive comments and advice about the article, [1] which mainly concerned details of the patients' information. In this paper, we reported 19 Kearns‑Sayre syndrome (KSS) patients whose diagnoses were in accordance with the current clinical diag...

The Authors Reply Thank you for your letter regarding our case report of three patients harboring the mitochondrial DNA A3243G (m.3243A>G) mutation, which manifested as chronic intestinal pseudo-obstruction (1). The pathophysiology of chronic intestinal pseudoobstruction caused by the m.3243A>G mutation was uncertain, and the presence of either myenteric plexus neuropathy or visceral myopathy w...

Glycogenic hepatopathy is a rare but probably underdiagnosed feature of poorly controlled diabetes, in particular type 1 diabetes. It is characterized by excessive hepatic glycogen storage as first described in 1930 by Mauriac as a part of a syndrome comprising growth retardation, delayed puberty, and Cushingoid features in young patients with type 1 diabetes (1). Recent case reports have demon...

how to cite this article: karimzadeh p. approach to neurometabolic diseases from a pediatric neurological point of view. iran j child neurol. 2015 winter;9(1): 1-16.   abstract objective neurometabolic disorders are an important group of diseases that mostly are presented in newborns and infants. neurological manifestations are the prominent signs and symptoms in this group of diseases. seizure...