Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association

MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause seizures, hypotonia, apnoea, microcephaly, prog...

Descripción completa

Detalles Bibliográficos
Autores principales: Mahale, Rohan R., Gautam, Jyothi, Arunachal, Gautam, Alappati, Sandhya, Varghese, Nibu, Kovoor, Jennifer, Mailankody, Pooja, Padmanabha, Hansashree, Pavagada, Mathuranath
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706591/
https://www.ncbi.nlm.nih.gov/pubmed/35018185
http://dx.doi.org/10.4103/jpn.JPN_96_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706591/
https://www.ncbi.nlm.nih.gov/pubmed/35018185
http://dx.doi.org/10.4103/jpn.JPN_96_20

Ejemplares similares