Phosphofructokinase deficiency is a very rare autosomal recessive disorder, which belongs to group of rare inborn errors of metabolism called glycogen storage disease. Here we report on a new mutation in the phosphofructokinase (PFK) gene PFKM identified in a 65-years-old woman who suffered from lifelong intermittent muscle weakness and painful spasms of random occurrence, episodic dark urines,...

neonatal diabetes mellitus (ndm) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. clinically, it is categorized into two main types: transient ndm (tndm) and permanent ndm (pndm). these types are diagnosed based on duration of insulin dependence early in the disease. in tndm, diabetes begins in the first few weeks of life with remission in a few months. howev...

background: progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. in this study, we introduce a patient with developmental regression and autism. the causative mutation was found by exome sequencing. methods: the proband showed a gener...

severe combined immunodeficiency (scid) represents a rare group of primary immunodeficiency disorders (pids), with known or unknown genetic alterations. here, we report a new interleukin 2 receptor, gamma chain (il-2rg) mutation in an iranian scid newborn.the patient was a 6-day old boy with a family history of pid. the child was screened using a molecular-based analysis for the assessment of t...

congenital generalized lipodystrophies (cgls) are very rare autosomal recessive disorders which have four types.of the four cgl types, bscl2 (berardinelli–seip congenital lipodystrophy type 2) is the result of mutations in the bscl2/seipingene.bscl2 which is the most severe lipodystrophic phenotype is characterized by generalized lipodystrophy, overgrowth,acanthosisnigricans, hepatomegaly, insu...

The last decade a couple of observations melanistic greater flamingos have been reported across Southern Mediterranean region. In October 2014 flamingo was observed and photographed for the first time in Europe Lake Kerkini National Park Northern Greece. All decade’s could concern same individual if we considered that melanism is an extremely rare genetic mutation are moving different lakes aro...