TAILIEUCHUNG - An introduction to metabolic disorders

The majority of Cambodia children do not receive appropriate first line treatment for diarrhea. Of children under five who had diarrhea in the two weeks preceding the DHS survey, just 21% were given ORS, 36% received recommended fluids (ORS and/ or homemade rehydration fluids) and just over half received increased fluids of any kind. Many children received inappropriate treatments: were treated with pills or syrups (CDHS, 2005). Of those who went to private sector providers, 42% were given antibiotics and 25% were given an injection. Those seeking care in the public clinics were treated with intravenous fluids 25% of the. | fc12 An introduction to metabolic disorders Individual inborn or congenital errors of metabolism are very rare. However more than 1400 inherited metabolic diseases have been described. Many of these disorders are potentially treatable via diet and or drug therapy. It is essential that a rapid accurate diagnosis be made to ensure rational treatment correct genetic advice and future antenatal diagnosis. The complexity diversity and rarity of congenital errors of metabolism in children are potential barriers to comprehensive care. Pharmacists have a key role in the care of these children. Traditionally the pharmacist s role has focused on the supply of medication including unlicensed or orphan products and chemicals obtained from non-pharmaceutical suppliers. However pharmacists may also be involved in creating care plans and emergency protocols routine clinical pharmacy activities liaising with children carers. Objectives On completion of this chapter you will be able to describe some presenting features of inborn errors of metabolism outline the main metabolic pathways and possible defects give some examples of inborn errors of metabolism describe some treatment options including their availability and status describe the pharmaceutical challenges in caring for this complex diverse patient group from both a community and hospital pharmacy perspective. Metabolic disorders 1. The disease Metabolic pathways The term metabolism refers to all biochemical processes and pathways in the body. Enzymes play a key role in many of these processes and changes in their function as a result of genetic mutation can lead to problems in these pathways. The major metabolic pathways for proteins carbohydrates and lipids are closely integrated with key molecules such as acetyl co-enzyme A via complex mechanisms see figure below . A genetic defect in any part of the major metabolic pathways is known as an inborn or congenital if present from birth error of metabolism. Inborn errors of .

• Sức khỏe trẻ em
• Children and Patients
• Chronic Renal
• Insulin Like Growth
• Factor Axis
• Preeclampsia
• Blood Parameters
• Otitis media
• Antibiotic susceptibility profile
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• Tonsillitis among children patients
• Streptococcus pyogenes isolated
• Venous Thromboembolism
• Certain Groups of Patients
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• hospitalized patients
• cohorts suggesting
• HIV transmission
• directly attrib
• reverse transcriptase
• inhibitors (NRTI)
• Transseptal catheterization
• Transseptal catheterization and interventions
• Intracardiac echocardiography
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• Transseptal left heart interventions
• BMC Pediatrics
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• Taussig bing anomaly
• Intramural coronary artery
• Medical sciences
• Metabolomic profiling in children
• Inflammatory bowel disease
• Paediatric patients
• Crohn's disease
• Ulcerative colitis