COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE.
Genet Couns
; 27(3): 399-403, 2016.
Article
en En
| MEDLINE
| ID: mdl-30204970
ABSTRACT
Cobalamin C (CbIC) deficiency is a rare disorder of vitamin B12 metabolism which results from impaired conversion of both its active forms methylcobalamin and adenosylcobalamin. Early onset cblC typically presents in the first year of life with hypotonia, lethargy, seizures, microcephaly, hydrocephalus, developmental delay and other multisystem involvement including hematologic, ocular, renal, hepatic and cardiac symptoms. We report a case of a female infant with cblC deficiency who presented with seizures, developmental delay and hypopigmented cutaneous lesions. To our knowledge, the patient is the first diagnosed with cblC deficiency who had skin hypopigmentation.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Espasmos Infantiles
/
Deficiencia de Vitamina B 12
/
Hipopigmentación
/
Homocistinuria
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
2016
Tipo del documento:
Article