Metabolic Medicine
Basic Training
Metabolic emergency
Recognition of metabolic emergency
Initial and acute management on
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Hypoglycaemia
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Hyperammonaemia
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Reye-like syndrome
Basic and special metabolic investigations
Indications of specific metabolic investigations
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Ammonia, lactate, glucose, gas
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Plasma amino acids
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Urine organic acids
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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:
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Amino acid and protein metabolism (including urea cycle defects, organic acidurias)
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Energy metabolism (including mitochondrial diseases)
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Carbohydrate metabolism (including glycogen storage disease)
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Lysosomal metabolism (including mucopolysaccharidoses)
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Neurotransmitter diseases
Desirable skills
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To understand the biochemical and molecular basis and inheritance pattern of inherited metabolic diseases
Higher Training
Metabolic emergency
Further workup and subsequent management on
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Hypoglycaemia
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Hyperammonaemia
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Reye-like syndrome
Special metabolic investigations
Precautions, and basic interpretations of specific metabolic investigations
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Plasma amino acids
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Urine organic acids
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Carnitine analysis
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Biopsies and enzymatic studies
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Neurotransmitter studies
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Molecular genetic investigations
Knowledge on the interpretation of results of common investigations of metabolic disorders
Newborn screening for inherited metabolic disease
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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:
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Amino acid and protein metabolism (including urea cycle defects, organic acidurias)
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Energy metabolism (including mitochondrial diseases)
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Carbohydrate metabolism (including glycogen storage disease)
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Lysosomal metabolism (including mucopolysaccharidoses)
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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
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Knowledge and skill in molecular biology in metabolism
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Understanding the principles and practice of metabolic assay methods
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To recognise the cost-effectiveness of various investigation and treatment modalities in the consideration of patient care.
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Specific interview competences where the diagnosis of a serious inherited metabolic condition is communicated to the parents.