Page last updated: 2024-10-06

Refsum Disease

Proteins (6)

ProteinSynonymsTaxonomy
Aldehyde dehydrogenase family 3 member A2EC 1.2.1.3; EC 1.2.1.94; Aldehyde dehydrogenase 10; Fatty aldehyde dehydrogenase; Microsomal aldehyde dehydrogenaseHomo sapiens (human)
Very long-chain acyl-CoA synthetaseVLACS; VLCS; EC 6.2.1.-; Arachidonate--CoA ligase; 6.2.1.15; Fatty acid transport protein 2; FATP-2; Fatty-acid-coenzyme A ligase, very long-chain 1; Long-chain-fatty-acid--CoA ligase; 6.2.1.3; Phytanate--CoA ligase; 6.2.1.24; Solute carrier family 27 memHomo sapiens (human)
Phytanoyl-CoA dioxygenase, peroxisomalEC 1.14.11.18; Phytanic acid oxidase; Phytanoyl-CoA alpha-hydroxylase; PhyHHomo sapiens (human)
ATP-binding cassette sub-family D member 1EC 7.6.2.4; Adrenoleukodystrophy protein; ALDPHomo sapiens (human)
ATP-binding cassette sub-family D member 2Adrenoleukodystrophy-like 1; Adrenoleukodystrophy-related protein; hALDRHomo sapiens (human)
2-hydroxyacyl-CoA lyase 1EC 4.1.2.n2; 2-hydroxyphytanoyl-CoA lyase; 2-HPCL; Phytanoyl-CoA 2-hydroxylase 2Homo sapiens (human)

Compounds (18)

CompoundDescription
succinic acidA water-soluble, colorless crystal with an acid taste that is used as a chemical intermediate, in medicine, the manufacture of lacquers, and to make perfume esters. It is also used in foods as a sequestrant, buffer, and a neutralizing agent. (Hawley's Condensed Chemical Dictionary, 12th ed, p1099; McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed, p1851)
Carbon DioxideA colorless, odorless gas that can be formed by the body and is necessary for the respiration cycle of plants and animals.
NADH
Adenosine TriphosphateAn adenine nucleotide containing three phosphate groups esterified to the sugar moiety. In addition to its crucial roles in metabolism adenosine triphosphate is a neurotransmitter.
adenosine diphosphateAdenosine 5'-(trihydrogen diphosphate). An adenine nucleotide containing two phosphate groups esterified to the sugar moiety at the 5'-position.
WaterA clear, odorless, tasteless liquid that is essential for most animal and plant life and is an excellent solvent for many substances. The chemical formula is hydrogen oxide (H2O). (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
OxygenAn element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration.
Coenzyme A
formyl-coenzyme A
phytanoyl-coenzyme a
pristanic acid
pristanalstructure given in first source
isobutyryl-coenzyme a
alpha-ketoglutaric acid
NADA coenzyme composed of ribosylnicotinamide 5'-diphosphate coupled to adenosine 5'-phosphate by pyrophosphate linkage. It is found widely in nature and is involved in numerous enzymatic reactions in which it serves as an electron carrier by being alternately oxidized (NAD+) and reduced (NADH). (Dorland, 27th ed)
phytanic acidA 20-carbon branched chain fatty acid. In phytanic acid storage disease (REFSUM DISEASE) this lipid may comprise as much as 30% of the total fatty acids of the plasma. This is due to a phytanic acid alpha-hydroxylase deficiency.
acetyl coenzyme aAcetyl CoA participates in the biosynthesis of fatty acids and sterols, in the oxidation of fatty acids and in the metabolism of many amino acids. It also acts as a biological acetylating agent.
pyrophosphate