3-hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a case report

Case presentation: Male patient, 6 months old, admitted due to seizure associated with severe refractory hypoglycemia. Patient had been experiencing unusual sleepiness for 8 days, and vomiting after feedings. Brain CT showed prominence of the bilateral frontotemporal extra-axial space Sylvian fissures, EEG revealed a slow diffuse moderate disturbance background activity MRI extensive areas diffusion restriction involving white matter cerebral hemispheres as well globus pallidus central fragmentary tracts in brainstem, without mass effect or enhancement by contrast. A hypothesis inborn error metabolism was raised therapy initiated diet adjustments L-carnitine, and, following patient clinically hemodynamically stable, no new episodes hypoglycemia seizures. The result biochemical analysis organic acids urine marked increase 3-hydroxy-isovaleric, glutaric, 3-methyl-glutaric, 3-methyl-glutaconic, 3-hydroxy-3-methylglutaric 3-methyl-crotonylglycine acids. Genetic testing demonstrated 3-hydroxy-methylglutaryl-CoA lyase deficiency (3HMG) homozygous mutation HMGCL gene.