Further Delineation of Ribose-5-phosphate Isomerase Deficiency: Report of a Third Case.
J Child Neurol
; 33(12): 784-787, 2018 10.
Article
en En
| MEDLINE
| ID: mdl-30088433
ABSTRACT
Ribose-5-phosphate isomerase deficiency, a disorder of the pentose phosphate shunt, was described in 1999. There are 2 previously reported cases of ribose-5-phosphate isomerase deficiency. Here, we describe the clinical course, diagnostic odyssey, and molecular findings in the third case of ribose-5-phosphate isomerase deficiency to further delineate the syndrome. Whole-exome sequencing demonstrated 2 mutations in the ribose-5-phosphate isomerase gene, RPIA, in a child with neonatal onset leukoencephalopathy and psychomotor delays. Urine polyols were elevated confirming deficiency of ribose-5-phosphate isomerase (RPI, EC. 5.3.1.6) and pathogenicity of the variants. Measurement of urine polyols should be considered in cases of early-onset white-matter disease.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Polineuropatías
/
Errores Innatos del Metabolismo de los Carbohidratos
/
Isomerasas Aldosa-Cetosa
/
Leucoencefalopatías
/
Mutación
Tipo de estudio:
Etiology_studies
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
J Child Neurol
Asunto de la revista:
NEUROLOGIA
/
PEDIATRIA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Estados Unidos