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The following two abstracts presented at the Child Public Health session should have been published in the Supplement of the April edition. We apologise for this error.
British Inherited Metabolic Disease Group and British Association of General Paediatrics Joint Session
G/THURS/GEM1 AUDIT OF METABOLIC INVESTIGATION OF RHABDOMYOLYSIS IN CHILDREN
V. McClelland, A. Powell, M. A. Preece, F. Gohar, A. Chakrapani, C. Hendriksz, P. Gissen.Birmingham Children’s Hospital, Birmingham, UK
Introduction: Causes of rhabdomyolysis, the breakdown of striated muscle cells leading to an acute increase in serum creatinine kinase (CK), are often apparent from the clinical history—for example, trauma, surgery, ischaemia, infection or excessive muscular activity. However, rhabdomyolysis may be the first presentation of a metabolic disorder. The Metbionet group have recently published a guideline for metabolic investigation of acute rhabdomyolysis.
Aim: To audit the investigations completed in children presenting to our hospital with acute rhabdomyolysis between 2000–2005.
Methods: A proforma for investigations based on local and Metbionet guidelines was produced. Hospital numbers for all patients <16-years-old with CK >5000 were identified and the computerised laboratory results system was used to review retrospectively which investigations had been performed.
Data were analysed for all 59 patients who met the inclusion criteria. Second line metabolic investigations (CSF lactate, fatty acid oxidation studies and muscle biopsy) were performed in <5% patients. Two new metabolic diagnoses were made, one patient with Carnitine palmitoyltransferase II (CPTII) deficiency and one with McArdle’s disease.
Conclusions: High (∼4%) incidence of metabolic diseases was found. A programme of improving awareness of metabolic diagnoses in patients with rhabdomyolysis for the hospital staff is being implemented with plans to re-audit in 2 years.
G/THURS/GEM2 UNEXPLAINED IDIOPATHIC HEPATITIS, COULD THIS BE A UREA CYCLE DISORDER?
D. Joel1, E. Dempsey2, A. Broderick3, I. Lambert4, A. Monavari1, E. Treacy1.1Children’s University Hospital, Dublin, Ireland; 2Coombe Women’s Hospital, Dublin, Ireland, 3Our Lady’s Hospital for Sick Children, Dublin, Ireland; 4Mid-Lands Regional Hospital, Mullingar, Ireland
We report two girls who presented at 12 and 19 months of age respectively, with abnormal liver function tests as an isolated finding. The first patient presented at 13 months of age, with a non-specific viral illness. A moderate elevation of the liver enzymes (AST: 156 IU, ALT: 202 IU) was noted, with no other concomitant findings. At 19 months, she presented again with a history of intermittent lethargy and occasional vomiting for 8 months. The liver function tests noted at that time showed elevations (alk phos 1040 IU, ALT: 1207 IU, AST: 411 IU) and prolonged coagulation (APTT: 49.3 s and PT: 26.7 s). Wilson’s disease, alpha-1-antitrypsin deficiency, haemochromatosis, viral and autoimmune hepatitis were all excluded. The ammonia was subsequently noted to be elevated (303 µmol/l) and testing for urea cycle defect confirmed a diagnosis of ornithine transcarbamylase deficiency and treatment was instituted, with resolution of the abnormal liver function tests. Subsequent mutational analysis confirmed a mutation of the ornithine transcarbamylase (OTC) gene (P225L).
The second case presented to hospital at 12 months of age, with a history of intermittent lethargy and vomiting for 1 month. She was noted to have elevated liver enzymes (ALT: 5143 IU, AST: 284 IU) and abnormal coagulation profile. Ammonia was slightly elevated (105 µmol/l). Viral and autoimmune hepatitis was excluded. Following a protein challenge, the ammonia rose to 224 µmol/l and the urine organic acid profile detected increased orotic acid suggestive of OTC deficiency. This was confirmed by enzymatic assay of a liver biopsy. The abnormal liver function tests subsequently resolved with institution of dietary intervention.
X-linked OTC deficiency is the commonest urea cycle defect, with a predicted incidence of 1 in 14 000 births. Males may present with severe life threatening neonatal hyperammonaemia or with a milder late onset form. The presentation in females can be subtle. OTC deficiency should be considered in the differential diagnosis of children presenting with abnormal liver function tests, in particular with a subtle presentation in females.