Page 99 - Hospital Authority Convention 2017

Masterclasses

M4.3 Multi-disciplinary Management of 14:30 Convention Hall A
Neurometabolic Disorders

Laboratory Investigations of Neurometabolic Disorders
Yuen LYP HOSPITAL AUTHORITY CONVENTION 2017
Department of Chemical Pathology, Prince of Wales Hospital, Hong Kong

Neurometabolic disorders can be defined as inborn errors of metabolism (IEM) with prominent neurological manifestations
such as seizure and mental retardation. Accurate and timely diagnosis of these disorders is important and yet extremely
challenging. One factor contributing to the difficulty is that the signs and symptoms of neurometabolic disorders can be
very non-specific and can mimic other common conditions. Also, neurometabolic disorder is very rare and is thus extremely
difficult for local paediatric units to accumulate experience. Moreover, some special laboratory investigations are only
available in overseas centres which create numerous logistical and financial hurdles to frontline clinical colleagues.

Neurometabolic disorders affect the myriad of human metabolic pathways, each of which may require special laboratory
investigations. From a local perspective, laboratory investigations for neurometabolic disorders can be divided into three
groups. The first group is the basic investigations, for example, ammonia, lactate, plasma amino acids and urine organic
acids. These investigations are readily available and should be requested for patients with suspected neurometabolic
disorders regardless of the actual clinical presentation. The second group is the more specific metabolic investigations
available locally, for example, urine glycosaminoglycans, urine oligosaccharides, serum very-long-chain fatty acids,
serum transferrin isoelectric focusing and cerebrospinal fluid neurotransmitters. These are the screening tests for
mucopolysaccharidosis, lysosomal storage disorders, peroxisomal disorders, congenital disorders of glycosylation
and specific IEM that affects the synthesis of dopamine and serotonin in the central nervous system. Although they are
considered screening tests for certain disease groups, their sensitivity may not be high enough to exclude a disease group by
a negative analysis result. The third group is the analysis of disease-causing genes by various genetic or genomic techniques.
With increasing clinical application of whole exome sequencing, our reliance on genomic analysis to diagnose neurometabolic
disorders has increased dramatically in the past few years and this trend is likely to continue. Tuesday, 16 May

M4.4 Multi-disciplinary Management of 14:30 Convention Hall A
Neurometabolic Disorders

Physiotherapy Management for Children with Neurometabolic Disorders
Chiu A
Department of Physiotherapy, The Duchess of Kent Children’s Hospital at Sandy Bay, Hong Kong
Inborn errors of metabolism are a group of genetic disorders with characteristics of dysfunction of an enzyme or other protein
involved in cellular metabolism. Most of these disorders involve the nervous system (neurometabolic diseases) and often
present with a complex clinical picture with psychomotor retardation and/or regression, ataxia, hypotonia, and epilepsy and
movement disorders. Some of them will have respiratory complications in later stage.

Children with neurometabolic diseases are under multi-disciplinary care in our team. They are referred to physiotherapy as
early as in diagnostic stage. Disease progress will be monitored clinically with detailed developmental, neurological and
movement assessment. In this presentation, we shall introduce the different clinical assessments for movement disorders,
physiotherapy interventions at different stages of the diseases that include developmental, functional and aerobic capacity
training, pain and symptoms management, pulmonary care programmes as well as palliative care support. Recent evidences
of these practices are reviewed. The importance of collaboration with schools and community partners and empowerment of
caregiver’s through education and support are also emphasised.

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