We describe on a 3-year-old child referred for evaluation and
therapy of a cerebral vascular accident with residual
hemiplegia and
partial epilepsy. Metabolic investigations initially showed normal urinary organic
acids as well as normal blood and urinary
amino acids. Blood
carnitine fractions had been pathological and a secondary
carnitine deficiency was diagnosed and treated by oral
L-carnitine supplementation. During
carnitine treatment, abnormal urinary
acylcarnitine profiles were noticed with excessive amounts of several
carnitine esters including
propionylcarnitine, butyryl- and/or isobutyryl-
carnitine, isovaleryl- and/or 2-methylbutyryl-carnitine,
hexanoylcarnitine and
octanoylcarnitine. Subsequently, an urinary organic
acid profile suggestive of
glutaric aciduria type II was recorded during a clinical decompensation crisis. Morphological and biochemical studies on skeletal muscle and skin fibroblasts were performed and confirmed the existence of a defect of the mitochondrial beta-oxidation pathways with lipidic
myopathy, reduced
palmitate and
octanoate oxidation rates in cultured fibroblasts.
Glutaric aciduria type II increases the list of metabolic disorders characterized by
hemiplegia and other sequelae of brain ischaemia such as
stroke-like episode,
seizures,
aphasia,
ataxia and myoclonia, similar to those seen in
MELAS.