Chemistry forms the foundational basis of all living organisms, underscoring the importance of biochemical and metabolic errors. These errors can have profound implications for health and brain development, making the array of available biochemical and metabolic tests feel both vital and overwhelming.
At our Paediatric and Neuroscience Centre, we emphasize a holistic approach in assessing each child. Instead of merely relying on a one-size-fits-all screening method, we strive to create a personalized diagnostic plan that takes into account the unique clinical context of each patient.
Customised biochemical and neurometabolic investigations are essential for identifying both reversible disorders, which can be treated with specific therapies, and irreversible conditions that may significantly affect long-term health. These tests can reveal potential treatment pathways and provide support, guiding families through complex medical challenges.
Navigating the realm of neurometabolic disorders can be particularly daunting. Determining whether to conduct testing often hinges on the progression of the condition. These disorders can exhibit diverse trajectories, ranging from static to progressive. In cases where uncertainty prevails, it’s prudent to treat the condition as if it were progressive, ensuring that no potential diagnosis is overlooked.
Below is a list of common neurometabolic tests frequently utilized in the diagnosis of neurological disorders in children, each offering valuable insights into the intricate workings of their health:
| Urine test | Indications |
|---|---|
|
Urine Organic Acids |
Developmental delay, learning disability, macrocephaly, movement disorders, ’cerebral palsy’, encephalopathy with or without epileptic seizures, myelopathy |
|
Urine Copper |
Movement disorders, behaviour disorder with or without liver dysfunction |
|
Urine Catecholamines |
Acute or subacute cerebellar ataxia, myoclonus, opsoclonus; early onset movement disorder with dystonia and oculogyric crisis; neonatal hypothermia and failure to thrive |
|
Urine GAG (glycosaminoglycans) |
Learning disability, coarse facies, corneal clouding, speech impairment, behavioural impairment. |
| Blood test | Indications |
|---|---|
|
Acylcarnitine/ carnitine profile |
Acute encephalopathy, Acute myopathy, rhabdomyolysis, unexplained hyperCKaemia |
|
Alpha-fetoprotein |
Ataxic ‘CP’, oculomotor apraxia |
|
Amino Acids |
Learning disability, hypotonia, early onset epilepsy, acute encephalopathy, intermittent ataxia, movement disorders, stroke |
|
Ammonia |
Early onset seizures, acute encephalopathy, stroke, vomiting-headache-impaired consciousness complex, ataxia |
|
Caeruloplasmin |
– Movement disorders, behaviour disorder with or without liver dysfunction – hypotonia, seizures, steely hair |
|
Calcium |
– Seizures, learning disability, movement disorders – developmental delay/ elfin facies |
|
Cholesterol |
Developmental delay, retinopathy, deafness, skeletal dysplasia, ataxia, spinocerebellar ataxia |
|
Copper |
– Movement disorders, behaviour disorder with or without liver dysfunction – hypotonia, seizures, steely hair |
|
CK |
Speech delay, toe walking, muscle weakness |
|
Creatinine |
Learning disability, seizures, movement disorders |
|
Electrolytes (Sodium, potassium, bicarbonate) |
Acute illness, intermittent weakness |
|
Ferritin |
Iron deficiency, restless leg syndrome, infection |
|
Glucose |
Reduced level of consciousness, seizures |
|
Lactate |
Encephalopathy, suspected mitochondrial disorders |
|
Magnesium/ Phosphate |
Neonatal seizures |
|
Prolactin |
Movement disorders, unexplained ‘seizures’ |
|
Thyroid function tests/ fT3 |
Thyroid diseases, encephalopathy, movement disorders |
|
Liver function tests |
– Developmental delay, hypotonia – Congenital infection/ congenital infection like disorder – Suspected mitochondrial disorders |
|
Uric Acid |
Early movement disorder with developmental delay |
|
Vitamin A |
Loss of vision in autism |
|
Vitamin B12 |
Developmental delay, seizures, movement disorders |
|
Vitamin E |
Developmental delay, retinal defects, deafness, ataxia |
| CSF test | Indications |
|---|---|
|
Amino acids |
Learning disability, hypotonia, early onset epilepsy, acute encephalopathy, intermittent ataxia, movement disorders, stroke |
|
Glucose |
Epilepsy, developmental delay, ataxia, movement disorders |
|
Lactate |
Suspected mitochondrial disorders |
|
Neurotransmitters |
Movement disorders, suspected inflammatory CNS disorder |
If you have any further questions, you can schedule an appointment today with Dr Yeo.
