RESUMEN
Sepiapterin reductase deficiency has recently been recognized as a treatable, inborn error of pterin metabolism. This investigation is the first long-term clinical study demonstrating impressive positive, long-term effects of treatment in two cases of sepiapterin reductase deficiency after 2 and 5 years of treatment respectively. The two patients were not diagnosed before 7 and 13 years of age. These results highlight the importance of cerebrospinal fluid neurotransmitter investigations in childhood encephalopathy, in cases of unexplained early-onset neurologic handicap. Such a widened approach to the diagnostic efforts in early-onset encephalopathy with motor delay during childhood is important, as we have at our disposal a simple and effective treatment.
Asunto(s)
Oxidorreductasas de Alcohol/deficiencia , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/tratamiento farmacológico , 5-Hidroxitriptófano/administración & dosificación , Adolescente , Antidepresivos de Segunda Generación/administración & dosificación , Carbidopa/administración & dosificación , Niño , Dopaminérgicos/administración & dosificación , Esquema de Medicación , Quimioterapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Levodopa/administración & dosificación , Masculino , Resultado del TratamientoRESUMEN
Sepiapterin reductase (SR) deficiency was recently described in patients with a severe biogenic amine deficiency presenting without hyperphenylalaninemia and it was suggested that the tetrahydrobiopterin (BH(4)) pathway may be different in different cells and tissues. We now developed a HPLC method for the measurement of yellow fluorescing sepiapterin for the rapid diagnosis of SR deficiency. Sepiapterin was elevated in CSF from two patients with SR deficiency (5.6 and 11.4 nmol/L) when compared with healthy controls (<0.5 nmol/L). Our data further support the hypothesis that sepiapterin is an intermediate in the salvage pathway of BH(4) and that it accumulates in the brain of patients with SR deficiency.