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  • 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...

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    Type:
    Guidance (Add filter)
  • 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...

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    Type:
    Guidance (Add filter)
  • 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

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    Guidance (Add filter)
  • 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...

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    Guidance (Add filter)
  • Undiagnosed hyperammonaemia (PDF)

    Source:
    British Inherited Metabolic Disease Group (Remove filter)

    Published by British Inherited Metabolic Disease Group (BIMDG), 10 August 2008

    Plasma ammonia concentrations are often a cause for concern and treatment may be very urgent. The symptoms are highly variable. Neonates often have an overwhelming illness, although respiratory...

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    Guidance (Add filter)
  • 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...

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    Guidance (Add filter)
  • Isovaleric acidaemia : acute decompensation (PDF)

    Source:
    British Inherited Metabolic Disease Group (Remove filter)

    Published by British Inherited Metabolic Disease Group (BIMDG), 22 May 2013

    Isovaleric acidaemia is caused by a deficiency of isovaleryl CoA dehydrogenase, an enzyme on the catabolic pathway of leucine. Treatment is aimed at reducing production of isovaleric and increasing...

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    Guidance (Add filter)

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