Abstract
Patients with inherited HMGCoA lyase deficiency show severe nonketotic hypoglycemia, acidosis and typical organic aciduria. In addition they are unable to produce adequate amounts of ketone bodies since the HMGCoA cycle is blocked in this disease. We report the effect of long term administration of DOHB (4mmol/bw/d) for treatment of a boy with this disorder from age 2 to 6 years. DOHB was applied in 4 daily doses. Monthly biochemical control analyses included glucose, ketone bodies, amino- and organic acids. In addition hepatic, renal and ocular function was assessed. DOHB assays showed adequate compliance with therapy. 3 episodes of hypoglycemia without acidosis were found associated with intercurrent infections. At the age of 6 years, the psychomotor development is normal. Height and weight remain at the 3rd percentile and head circonference is at the 50th percentile. No adverse effects of the DOHB administration were observed so far. We conclude that the long term use of DOHB together with a protein restricted diet allows feasible and effective treatment of HMGCoA lyase deficiency.The D- isomer of potassium hydroxybutyrate was a kind gift of Mr d'Oultremont, Brussels.
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