A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report.
Neurocase
; 28(4): 388-392, 2022 08.
Article
en En
| MEDLINE
| ID: mdl-36219783
ABSTRACT
Combined methylmalonic acidemia and homocystinuria, is a rare autosomal recessive disorder due to defective intracellular cobalamin metabolism. We report an 18-year-old Chinese male who presented with hypermyotonia, seizures, and congenital heart diseases. Mutation analysis revealed c.365A>T and c.482 G>A mutations in the MMACHC gene, diagnosed with methylmalonic aciduria and homocystinuria (CblC type). After treatment with vitamin B12, L-carnitine, betaine, and folate, which resulted in an improvement in his clinical symptoms and laboratory values. This case emphasizes that inborn errors of metabolism should be considered for a teenager presenting with challenging or neurologic symptoms, especially when combined with unexplained heart diseases.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Errores Innatos del Metabolismo de los Aminoácidos
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Cardiopatías Congénitas
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Homocistinuria
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
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Humans
/
Male
Idioma:
En
Revista:
Neurocase
Asunto de la revista:
CIENCIAS DO COMPORTAMENTO
/
NEUROLOGIA
/
PSICOLOGIA
/
PSIQUIATRIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
China