A patient with an inborn error of vitamin B12 metabolism (cblF) detected by newborn screening.
Pediatrics
; 132(1): e257-61, 2013 Jul.
Article
en En
| MEDLINE
| ID: mdl-23776111
ABSTRACT
A neonate, who was found to have an elevated C3/C2 ratio and minimally elevated propionylcarnitine on newborn screening, was subsequently identified as having the rare cblF inborn error of vitamin B12 (cobalamin) metabolism. This disorder is characterized by the retention of unmetabolized cobalamin in lysosomes such that it is not readily available for cellular metabolism. Although cultured fibroblasts from the patient did not show the expected functional abnormalities of the cobalamin-dependent enzymes, methylmalonyl-CoA mutase and methionine synthase, they did show reduced synthesis of the active cobalamin cofactors adenosylcobalamin and methylcobalamin. Mutation analysis of LMBRD1 established that the patient had the cblF disorder. Treatment was initiated promptly, and the patient showed a robust response to regular injections of cyanocobalamin, and she was later switched to hydroxocobalamin. Currently, at 3 years of age, the child is clinically well, with appropriate development. Adjusted newborn screening cutoffs in Ontario allowed detection of a deficiency that might not have otherwise been identified, allowing early treatment and perhaps preventing the adverse sequelae seen in some untreated patients.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Tamizaje Neonatal
/
Proteínas de Transporte Nucleocitoplasmático
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
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Prognostic_studies
/
Screening_studies
Límite:
Child, preschool
/
Female
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Humans
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Infant
/
Newborn
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Pediatrics
Año:
2013
Tipo del documento:
Article
País de afiliación:
Canadá