TY - JOUR
T1 - Multisystem neuronal degeneration, hepatosplenomegaly, and adrenocortical deficiency associated with reduced tissue arachidonic acid
AU - Dyck, Peter James
AU - Yao, Jeffrey K.
AU - Knickerbocker, Donald E.
AU - Holman, Ralph T.
AU - Gomez, Manuel R.
AU - Hayles, Alvin B.
AU - Lambert, Edward H.
PY - 1981/8
Y1 - 1981/8
N2 - We studied two brothers with a previously unrecognized syndrome characterized by failure to thrive, visual loss resulting from retinitis pigmentosa, sensorineural hearing loss, mental retardation, distal progressive muscular atrophy, hepatosplenomegaly, and adrenocortical deficiency. Biopsied tissue showed a consistent reduction of arachidonic acid and other polyunsaturated fatty acids, but not of linoleic acid. Deranged metabolism and specifically a deficiency of polyunsaturated fatty acids, including arachidonic acid, may be involved.
AB - We studied two brothers with a previously unrecognized syndrome characterized by failure to thrive, visual loss resulting from retinitis pigmentosa, sensorineural hearing loss, mental retardation, distal progressive muscular atrophy, hepatosplenomegaly, and adrenocortical deficiency. Biopsied tissue showed a consistent reduction of arachidonic acid and other polyunsaturated fatty acids, but not of linoleic acid. Deranged metabolism and specifically a deficiency of polyunsaturated fatty acids, including arachidonic acid, may be involved.
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U2 - 10.1212/wnl.31.8.925
DO - 10.1212/wnl.31.8.925
M3 - Article
C2 - 6267514
AN - SCOPUS:0019409905
SN - 0028-3878
VL - 31
SP - 925
EP - 934
JO - Neurology
JF - Neurology
IS - 8
ER -