Endocrine Abstracts (2015) 38 P281 | DOI: 10.1530/endoabs.38.P281

Inborn errors of metabolism and the endocrinologist

Waiel A Bashari & Samson O Oyibo


Peterborough City Hospital, Peterborough, UK.


Introduction: Patients with life-threatening inborn errors of metabolism are usually managed at specialist care centres. These patients are living longer and some of them have migrated to areas far from their specialist care centres. We present two such cases.

Case 1: A 37 year old female with Ornithine Transcarbamylase Deficiency (OTCD), well-managed at a specialist care centre since childhood, relocated a few times before settling down in our area. OTCD is an x-linked disorder resulting in the inability to convert ammonia to urea as part of the urea cycle. She is at risk of lift-threatening hyperammonaemia if she gets infections or other stressful conditions. She has had several admissions and has an individualised care pathway for emergency treatment and also for peri-operative management. She is on a low-protein diet and is prescribed long-term nitrogen scavenger medications, which are not well documented in the British National Formulary for adults. She has regular outpatient follow-up with open-access for urgent plasma ammonia estimation if required.

Case 2: A patient with medium-chain acyl-CoA dehydrogenase deficiency (MCADD) well-managed at a specialist care centre since childhood is under our care because he lives too far from his specialist centre. MCADD is an autosomal recessive disorder resulting in the inability to breakdown medium-chain fatty acids to provide energy during periods of low-calorie intake (infections, fasting or vomiting). He is at risk of encephalopathy and sudden death from the accumulation of toxic fatty acids and hypoglycaemia. He has an individualised care pathway for emergency treatment and has regular follow-up in the outpatient clinic.

Conclusion: Training concerning inborn errors of metabolism needs to be incorporated into endocrinology specialist training schemes as more secondary care centres are caring for these patients. The importance of seeking advice from specialist centres and from the Inherited Metabolic Disease Groups cannot be overemphasised.

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