Metabolic Medicine

Decorating easter Eggs
Draft proposed by Dr Joanna Tung
Reviewed by Dr Eric KW Lee

Essential Skills

Domain 1 Professional Values & Behaviour

Domain 2 Communication

Domain 4 Patient Management

Additional desirable skills are listed in each proposal. These recommended skills are to be acquired as opportunity arises

Basic Training

Metabolic emergency

Recognition of metabolic emergency

Initial and acute management on

  • Hypoglycaemia

  • Hyperammonaemia

  • Reye-like syndrome

Basic and special metabolic investigations

Indications of specific metabolic investigations

  • Ammonia, lactate, glucose, gas

  • Plasma amino acids

  • Urine organic acids

  • Carnitine analysis

Administration and interpretation of common metabolic investigations under supervision

 

Newborn screening for inherited metabolic disease

Basic knowledge on the current Hong Kong Extended Newborn Screening Program on inherited metabolic disease

 Understand the limitations on the current Hong Kong Extended Newborn Screening Program on inherited metabolic disease

Specific metabolic pathway and their disorders

To understand the common presentations of inherited metabolic disorders like acidosis, developmental regression, encephalopathy, organomegaly, sudden infant death

 Recognition and initial management on:

  • Amino acid and protein metabolism (including urea cycle defects, organic acidurias)

  • Energy metabolism (including mitochondrial diseases)

  • Carbohydrate metabolism (including glycogen storage disease)

  • Lysosomal metabolism (including mucopolysaccharidoses)

  • Neurotransmitter diseases

 

Desirable skills

  1. To understand the biochemical and molecular basis and inheritance pattern of inherited metabolic diseases

Higher Training

Metabolic emergency

Further workup and subsequent management on

  • Hypoglycaemia

  • Hyperammonaemia

  • Reye-like syndrome

Special metabolic investigations

Precautions, and basic interpretations of specific metabolic investigations

  • Plasma amino acids

  • Urine organic acids

  • Carnitine analysis

  • Biopsies and enzymatic studies

  • Neurotransmitter studies

  • Molecular genetic investigations

Knowledge on the interpretation of results of common investigations of metabolic disorders

  •  

Newborn screening for inherited metabolic disease

  • Initial management of abnormal newborn screening

 

Specific metabolic pathway and their disorders

Under the supervision of specialists in metabolic team, to participate in the long-term, multidisciplinary management in:

  • Amino acid and protein metabolism (including urea cycle defects, organic acidurias)

  • Energy metabolism (including mitochondrial diseases)

  • Carbohydrate metabolism (including glycogen storage disease)

  • Lysosomal metabolism (including mucopolysaccharidoses)

  • Neurotransmitter diseases

Understand the principles of dietary, megavitamin and pharmacological treatment, enzyme replacement and transplant for metabolic disorders

 Be aware of the social implications and prognosis of children with metabolic disorders

 

 

Desirable skills 

  1. Knowledge and skill in molecular biology in metabolism

  2. Understanding the principles and practice of metabolic assay methods

  3. To recognise the cost-effectiveness of various investigation and treatment modalities in the consideration of patient care.

  4. Specific interview competences where the diagnosis of a serious inherited metabolic condition is communicated to the parents.