Hyperinsulinemic hypoglycaemia (HH) is a group of clinically, genetically, and morphologically heterogeneous disorders characterized by dysregulation of insulin secretion by pancreatic beta cells. HH can either be congenital genetic hyperinsulinism or associated with metabolic disorder and syndromic condition. Early identification and meticulous management of these patients is vital to prevent ...

Cornelia de Lange syndrome (CdLS) is an uncommon multiple congenital anomaly with unknown cause and recurrent risk and may be the result of an inheritance metabolic error. In classical form of the syndrome there is a recognizable facial appearance at birth although in children with mild disease this may be less obvious at birth but become more noticeable over the first three years of life. In t...

diagnosing inherited metabolic disorders is a joint effort of both clinical and laboratory disciplines. various aspects of metabolite, enzyme and mutation analysis will be discussed based on the experience of the metabolic section of the erasmus university medical centre. where should laboratory diagnosis start from? metabolite, enzyme or dna level? the emphasis will be on enzyme analysis of th...

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The timely detection of newborns with congenital phenylketonuria, in which the metabolism amino acid phenylalanine is disturbed due to lack enzyme hydroxylase, remains an urgent issue. Increase level and its toxic products cell leads severe brain damage, manifests itself form mental retardation. Prompt diagnosis phenylketonuria can prevent dementia serious disorders. aim work a comprehensive st...

background: thyroid function disorders, particularly congenital hypothyroidism (cht), are important endocrine dysfunctions associated with permanent morbidities. cht is more prevalent among preterm low-birth-weight neonates compared to term infants with normal weight. methods: this prospective cohort study was conducted on 126 very-low-birth-weight (vlbw) neonates referred to the neonatal inten...

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to vis...

the month of ramadan, as a model of intermittent fasting, is a valuable opportunity to investigate the effects of dietary modifications on human metabolism. fasting improves insulin sensitivity, reduces atherogenic risk, oxidative stress, and inflammation. inflammation plays a key role in the pathogenesis of different disorders including atherosclerosis, metabolic syndrome and cardiovascular di...