Fatty acid 2-hydroxylase deficiency: clinical features and brain iron accumulation

Neurology. 2015 Mar 3;84(9):960-1. doi: 10.1212/WNL.0000000000001316.

Authors

José Luiz Pedroso¹, Benjamin W Handfas², Agessandro Abrahão², Fernando Kok², Orlando G P Barsottini², Acary S Bulle Oliveira²

Affiliations

¹ From the Universidade Federal de São Paulo (J.L.P., A.A., O.G.P.B., A.S.B.O.); Hospital Israelita Albert Einstein (B.W.H.); and Mendelics Genomic Analysis (F.K.), São Paulo, Brazil. jlpedroso.neuro@gmail.com.
² From the Universidade Federal de São Paulo (J.L.P., A.A., O.G.P.B., A.S.B.O.); Hospital Israelita Albert Einstein (B.W.H.); and Mendelics Genomic Analysis (F.K.), São Paulo, Brazil.

PMID: 25732363
DOI: 10.1212/WNL.0000000000001316

No abstract available

Publication types

Case Reports

MeSH terms

Brain / metabolism*
Female
Humans
Iron / metabolism*
Mixed Function Oxygenases / deficiency*
Paraplegia / diagnosis*
Paraplegia / genetics
Paraplegia / metabolism*
Young Adult

Substances

Iron
Mixed Function Oxygenases
fatty acid alpha-hydroxylase