The adult and adolescent clinic for inborn errors of metabolism

D P Brenton1

  • 1Postgraduate Centre, The Middlesex Hospital, London, UK.

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What is Metabolism?

Overview
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Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
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Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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Parentral Nutrition: Centeral and Peripheral Parental Nutrition

Parenteral Nutrition (PN) delivers essential nutrients directly into the bloodstream, bypassing the digestive system. It is commonly used for individuals with severe digestive disorders or conditions that prevent normal nutrient absorption.
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1. Central Parenteral Nutrition (CPN):
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