## Communicated by Johannes Zschocke Refsum disease has long been known to be an inherited disorder of lipid metabolism characterized by the accumulation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid) caused by an a-oxidation deficiency of this branched chain fatty acid in peroxisomes.
Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl-CoA hydroxylase cDNA
β Scribed by G. A. Jansen; S. Ferdinandusse; O. H. Skjeldal; O. Stokke; C. J. De Groot; C. Jakobs; R. J. A. Wanders
- Book ID
- 110224323
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 92 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0141-8955
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## Communicated by Johannes Zschocke Methylmalonyl-CoA mutase (MCM) apoenzyme deficiency is a rare metabolic disease that may result in distinct biochemical phenotypes of methylmalonic acidemia (MMA), namely mut1 and mut-. We analyzed a cohort of 40 MCM-deficient patients with MMA affected by eithe