Fatty acid 2-hydroxylase deficiency: Clinical features and brain iron accumulation
نویسندگان
چکیده
منابع مشابه
Pantothenate kinase 2 deficiency: A neurodegeneration with brain iron accumulation
Pantothenate kinase 2 deficiency (previously known as Hallervorden-Spatz disease) is an unusual metabolic disorder characterized by progressive extrapyramidal dysfunction and dementia. A 27-year-old Caucasian presented with a major depression disorder and social phobia since adolescence. Patient had marked paranoia, auditory hallucinations, extrapyramidal dysfunction, poor memory, and gait abno...
متن کاملStereospecificity of fatty acid 2-hydroxylase and differential functions of 2-hydroxy fatty acid enantiomers.
FA 2-hydroxylase (FA2H) is an NAD(P)H-dependent enzyme that initiates FA α oxidation and is also responsible for the biosynthesis of 2-hydroxy FA (2-OH FA)-containing sphingolipids in mammalian cells. The 2-OH FA is chiral due to the asymmetric carbon bearing the hydroxyl group. Our current study performed stereochemistry investigation and showed that FA2H is stereospecific for the production o...
متن کاملClinical Features of Lysosomal Acid Lipase Deficiency
OBJECTIVE The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. METHODS Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and imaging data on living patients to develop a longitudinal dataset. RESULTS A total of 49 patients ...
متن کاملNeuroimaging features of neurodegeneration with brain iron accumulation.
NBIA characterizes a class of neurodegenerative diseases that feature a prominent extrapyramidal movement disorder, intellectual deterioration, and a characteristic deposition of iron in the basal ganglia. The diagnosis of NBIA is made on the basis of the combination of representative clinical features along with MR imaging evidence of iron accumulation. In many cases, confirmatory molecular ge...
متن کاملClinical and genetic delineation of neurodegeneration with brain iron accumulation.
Neurodegeneration with brain iron accumulation (NBIA) describes a group of progressive neurodegenerative disorders characterised by high brain iron and the presence of axonal spheroids, usually limited to the central nervous system. Mutations in the PANK2 gene account for the majority of NBIA cases and cause an autosomal recessive inborn error of coenzyme A metabolism called pantothenate kinase...
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ژورنال
عنوان ژورنال: Neurology
سال: 2015
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000001316