Page last updated: 2024-09-27

Infantile Form of Phytanic Acid Storage Disease

An early onset form of phytanic acid storage disease with clinical and biochemical signs different from those of REFSUM DISEASE. Features include MENTAL RETARDATION; SENSORINEURAL HEARING LOSS; OSTEOPOROSIS; and severe liver damage. It can be caused by mutation in a number of genes encoding proteins involving in the biogenesis or assembly of PEROXISOMES.

Synonyms(7)

Synonym
Infantile Phytanic Acid Storage Disease
Refsum Disease, Infantile
Refsum Disease, Infantile Form
Refsum's Disease, Infantile
Infantile Form of Phytanic Acid Storage Disease
Infantile Refsum Disease
Infantile Refsum's Disease

Research Excerpts

Context

ExcerptReference
"Infantile Refsum disease has clinical features and a pathophysiology distinct from classic Refsum disease, despite occasionally presenting for examination later in life."( Maberley, DA; Pakzad-Vaezi, KL, 2014)

Research

Studies (4)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's1 (25.00)18.1394
2010's3 (75.00)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
pipecolic acid0low10
phytanic acid0medium30

Protein Targets (74)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, TYROSYL-DNA PHOSPHODIESTERASE1001
Chain A, Ferritin light chain1001
phosphopantetheinyl transferase1001
aldehyde dehydrogenase 1 family, member A11001
arylsulfatase A1001
euchromatic histone-lysine N-methyltransferase 22002
Bloom syndrome protein isoform 11001
cytochrome P450 2C19 precursor1001
lethal factor (plasmid)1001
lamin isoform A-delta101001
Metabotropic glutamate receptor 60011
Excitatory amino acid transporter 40101
Glutamate transporter homolog0011
Carbonic anhydrase 10001
Carbonic anhydrase 20001
N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase0101
5-hydroxytryptamine receptor 1D0001
Glutamate receptor ionotropic, NMDA 1 0101
Excitatory amino acid transporter 10101
Excitatory amino acid transporter 20101
Excitatory amino acid transporter 30101
Glutamate receptor ionotropic, NMDA 2A 0101
Glutamate receptor ionotropic, NMDA 2B0101
Glutamate receptor ionotropic, NMDA 2C0101
Metabotropic glutamate receptor 10011
Metabotropic glutamate receptor 20011
Carbonic anhydrase-like protein, putative0001
Glutamate receptor ionotropic, NMDA 2D0101
Glutamate receptor ionotropic, NMDA 3B0101
Carbonic anhydrase 40001
Glutamate receptor ionotropic, NMDA 3A0101
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Acetylcholinesterase0011
Chain A, Putative Glycine Betaine-binding Abc Transporter Protein0011
Chain A, PUTATIVE GLYCINE BETAINE-BINDING ABC TRANSPORTER PROTEIN0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Glycine betaine/carnitine/choline-binding protein0011
Chain A, Choline-binding protein0011
muscarinic acetylcholine receptor M11001
Solute carrier family 22 member 10102
Solute carrier family 22 member 20001
Solute carrier family 22 member 1 0001
Solute carrier family 22 member 20101
Neuronal acetylcholine receptor subunit alpha-30101
Neuronal acetylcholine receptor subunit alpha-40101
Neuronal acetylcholine receptor subunit alpha-20101
Neuronal acetylcholine receptor subunit beta-20101
Neuronal acetylcholine receptor subunit beta-30101
Neuronal acetylcholine receptor subunit beta-40101
Neuronal acetylcholine receptor subunit alpha-50101
Acetylcholinesterase0101
Sodium- and chloride-dependent creatine transporter 10101
Choline O-acetyltransferase 0001
Neuronal acetylcholine receptor subunit alpha-60101
Neuronal acetylcholine receptor subunit alpha-90101
Neuronal acetylcholine receptor subunit alpha-70101
Solute carrier family 22 member 10102
High affinity choline transporter 10101
Neuronal acetylcholine receptor subunit alpha-100101
Solute carrier family 22 member 20102
ATP-dependent phosphofructokinase1001
Sodium- and chloride-dependent creatine transporter 10101
Proton-coupled amino acid transporter 10101
Fatty acid-binding protein, liver0101
Fatty acid-binding protein, liver0101
Peroxisomal sarcosine oxidase0001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]