Add this result to my export selection MCAD deficiency : management of newborn babies with a family history (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 10 July 2012 MCAD deficiency is an inherited disorder of fat breakdown and one of the commonest inborn errors of metabolism. Most of the time patients are healthy and do not require a special diet. Infections, ... Read Summary Type: Guidance (Add filter)
Add this result to my export selection BIMDG protocol: management of a baby at risk of a urea cycle disorder (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 23 November 2009 This guidance addresses the management of the at-risk child during pregnancy and at birth. The following steps should be undertaken: A careful history is essential and should be reviewed by a... Read Summary Type: Guidance (Add filter)
Add this result to my export selection Ketotic hypoglycaemia (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 22 May 2013 Ketotic hypoglycaemia is a poorly understood condition that most commonly affects young children between the ages of one and five years. The history is characteristic. A toddler who is unwell... Read Summary Type: Guidance (Add filter)
Add this result to my export selection Glut 1 deficiency (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 01 February 2012 Children with GLUT1 deficiency have an impaired glucose transport into the brain and glucose levels in CSF are low (hypoglychorrhachia). As a result, seizures and secondary microcephaly are... Read Summary Type: Guidance (Add filter)
Add this result to my export selection Carnitine transporter deficiency (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 01 January 2009 Carnitine transporter deficiency usually presents with cardiomyopathy and muscle weakness. It responds well to carnitine supplementation and for most of the time patients are healthy. However... Read Summary Type: Guidance (Add filter)
Add this result to my export selection Citrin deficiency protocol (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 01 January 2012 This protocol provides recommendations for the emergency assessment and treatment of citrin deficiency (also known as Citrullinaemia type 2) Last revised January 2017 Read Summary Type: Guidance (Add filter)
Add this result to my export selection HMG CoA Lyase deficiency (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 01 January 2008 3-hydroxy-3-methyl Glutaryl CoA lyase deficiency is a disorder of ketone synthesis. This enzyme is also on the leucine breakdown pathway. For most of the time patients are healthy & do not... Read Summary Type: Guidance (Add filter)
Add this result to my export selection Glycogen storage disease type III : acute decompensation (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 01 January 2008 Patients with glycogen storage disease type III may become hypoglycaemic during a fast, the length of which varies widely between patients. During illness, patients have a greater tendency to become... Read Summary Type: Guidance (Add filter)
Add this result to my export selection Glutaric aciduria type 1 : acute decompensation (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 01 January 2008 Glutaric aciduria is an inherited disorder of the breakdown of certain amino acids, notably lysine. Any metabolic stress can lead to serious illness, with encephalopathy - a reduced level... Read Summary Type: Guidance (Add filter)
Add this result to my export selection Recurrent hypoglycaemia (PDF) Source: British Inherited Metabolic Disease Group (Remove filter) Published by British Inherited Metabolic Disease Group (BIMDG), 22 May 2013 Hypoglycaemia is a feature of many conditions, including well defined inherited metabolic diseases and endocrine disorders. It can also occur, for reasons that are not completely understood, in... Read Summary Type: Guidance (Add filter)