Endocrine Abstracts

We report the case of a 37-year-old woman with a 9-month history of intermittent and variable symptoms of anorexia, nausea & vomiting, muscular weakness and pain in association with recurrent hypoglycaemic episodes. The patient stated that she had episodes of myalgia with generalised weakness affecting mobility and a history of significant weight loss as a result of anorexia and nausea & vomiting. The patient had two previous hospital admissions with similar symptoms and had improved with supportive treatments. Case note review revealed extensive normal biochemical and radiological investigation. It was thought that her symptoms were psychological in nature and that the the low blood glucose readings were spurious or as a result of starvation. Investigations on re-admission to hospital revealed hypoglycaemia on two occasions with a lab glucose of 2.0 mmol/L and 3.2 mmol/L. HBA1C was 29 mmol/Mol. Urinalysis demonstrated Ketonuria ++++. Creatine Kinase was greater than 1000 u/L. Venous Lactate was raised at 4 mmol/L. Transaminases were mildly raised and renal function was normal. On examination the patient had weakness of her limbs and had difficulty lifting her head up from her chest. A metabolic disorder was suspected owing to the combination of intermittent and variable symptoms in association with hypoglycaemia, ketonuria, raised CK and metabolic acidosis. Urine organic acid profile was performed and revealed raised 2-hydroxyglutarate levels suggestive of Multiple Acyl-CoA Dehydrogenase Deficiency (MADD). The patient was commenced on treatment with oral Riboflavin, vitamin B2, and her symptoms improved as did the biochemical abnormalities. Genetic analysis revealed a heterozygous EFTDH mutation confirming the diagnosis. MADD is rare inherited and clinically heterogeneous disorder of fatty & amino acid oxidation and a rare cause of hypoglycaemia. As Endocrinologists special consideration must be given to potential non endocrine and unusual causes of hypoglycaemia.