overview of the most common enzyme defect, glucose-6-phosphate-dehydrogenase deficiency

Background: Glucose-6-Phosphate-Dehydrogenase [G6PD] deficiency is the most common enzyme deficiency globally and is more remarkable in certain parts of the world which had high malaria prevalence in the past. It is an X-linked genetically inherited disorder, where the first presentation can be neonatal jaundice. There are over 300 variants of this disorder based upon the genetics. Although the morbidity and mortality is not very high, the deficiency can be more appropriately managed by proper preventive methods which include screening and avoidance of trigger. Also prompt management of acute hemolysis can save a child from many complications

Methodology: we conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE from January 1987 to March 2017. The following search terms were used: G6PD deficiency, prevalence of G6PD, genetics of G6PD deficiency, management and diagnosis of G6PD

Aim of the work: this study aimed to understand about the etiology, pathophysiology and study various lines of prevention and management of G6PD deficiency in pediatric age group

Conclusion: proper preventive and treatment methods can avoid negative effects on the child's quality of life and reduce morbidity and mortality, therefore the child's care takers must be well informed

Nonalcoholic Fatty Liver Disease [NAFLD]

Background: Nonalcoholic fatty liver disease is the most frequent cause of liver disease across the world. Its pathophysiology is considered multifaceted and is controlled by numerous mechanisms comprising environmental, metabolic, genetic, and gut microbial factors. Diagnosis of nonalcoholic fatty liver disease poses a challenge owing to its subtle and non-specific presentation

Methodology: we conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE from January 1987 to March 2017. The following search terms were used: fatty liver disease, nonalcoholic liver disease, chronic liver disease, diagnosis and management of liver pathology

Aim of the work: In this study we aimed to understand about the pathophysiology, diagnosis, management and prognosis of nonalcoholic fatty liver disease

Conclusion: More studies must be done to formulate a more definite and reliable diagnostic method. General practitioners and specialists must be informed of the possible manifestation sings to keep higher degree of suspicion. Once NAFLD is established, frequent follow-up and proper management can reduce complications and improve prognosis