Area of expertise and the Healthcare Provider’s contribution to care for patients within the MetabERN Network
Birmingham Children’s Hospital NHS Foundation Trust
Birmingham, UK
The metabolic team consists of a large multidisciplinary group including doctors, nurses,specialist dietitians and laboratory scientist. There are other specialties and therapists involved and they work closely with the metabolic team in managing children with rare metabolic conditions.
The metabolic team provides regional newborn screening for MCADD,MSUD, Homocystinuria,Isovaleric acidaemia,Glutaric aciduria type I.
The regional metabolic laboratory at this hospital is very experienced in newborn screening, diagnostics, monitoring for fatty acid oxidation disorders, amino acid and organic acid disorders and lysosomal storage disorders.It is the diagnostic reference lab in the UK for pterin defects. It also provides a worldwide diagnostic service for Glycine encephalopathy.
The clinicians and dietitians are very experienced in the diagnosis and management of all small molecule disorders – amino acid, carbohydrate and fatty acid / ketone metabolism defects. The liver transplant team and hepatologists work closely with the metabolic team.
The clinicians and the laboratory provide a diagnostic and nationally designated service for the diagnsosis and management of lysosomal storage disorders(LSDs). Enzyme replacement therapy is offered for suitable patients with Mucopolysaccahridoses I, II, IVA,VI. Stem cell transplantation is offered for certain LSDs including MPSIH,MPSVI and a few other LSDs such as Juvenile Krabbe disease, if suitable.
The joint neurometabolic clinic is the only one in the UK and sees a wide variety of patients for diagnosis and management including mitochondrial disorders, neurotransmitter, genetic disorders. Pyridoxine dependent epilepsy is diagnosed and managed with a combination of dietary and medical intervention. Dr Evangeline Wassmer is the neurologist who works with the metabolic team in this clinic.
The metabolic team will co-operate and work with the Network to provide
- Diagnostic laboratory and clinical opinion / second opinion
- Cooperate to develop clinical guidelines and outcome measures
- Work with the network in quality control
- Share difficult cases, ethical dilemmas, education, maintaining and contributing to patient registries
SPECIFIC TREATMENTS AND INTERVENTIONS PROVIDED BY THE HCPs
The metabolic team provides holistic and multidsicplinary care to children with metabolic disorders.
This includes medical and specialist dietary management, stem-cell and solid organ transplantation – liver and kidney, enzyme replacement therapy, substrate deprivation therapy, intensive care- haemodialysis and haemofiltration.
The diagnostic laboratory provides newborn screening and diagnostic services for the entire range of metabolic disorders ( except enzymatic diagnosis of MPS disorders and Some LSDs, which are sent to the central laboratory in Manchester).
A fully equipped radiology department provides diagnostic and intervential radiology with 2T and 3T MRI scanners, CT scan, Ultrasonography.
All surgical specialities are present under one roof, for metabolic patients . This includes general surgery, cardiac, renal and liver surgery,hand usrgery, plastic surgery, orthopaedics, ENT, opthalmology and neurosurgery.
The 32 Bed intensive care unit and retrieval team can assist in the management of sick metabolic patients with haemodialysis, haemofiltration, ECMO and assisted ventilation.
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