TY - JOUR
T1 - Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia
T2 - Studies in four children
AU - Budden, Sarojini S.
AU - Kennaway, Nancy G.
AU - Buist, Neil R.M.
AU - Poulos, A.
AU - Weleber, Richard G.
N1 - Funding Information:
Refsum disease, or classic phytanic acid storage disease, is a rare autosomal recessive disorder of lipid metabolism in which there is a defect in alpha oxidation of phytanic acid? The disorder is characterized by retinitis pigmentosa, peripheral neuropathy, and cerebellar ataxia. Additional findings may include sensorineural hearing loss, cardiac Supported in part by a grant from the National Retinitis Pigmcn-tosa Foundation Fighting Blindness (N.G.K. and R.G.W.) and by Grant C195 from the National Foundation March of Dimes (N.R.M.B.) Submitted for publication May 7, 1985; accepted Sept. 5, 1985. Reprint requests: S. S. Budden, M.D., Crippled Children's Division, The Oregon Health Sciences University, P.O. Box 574, Portland, OR 97207.
PY - 1986/1
Y1 - 1986/1
N2 - We describe a relatively new syndrome in four children with characteristic facial dysmorphism, sensorineural hearing loss, severe visual impairment with retinitis pigmentosa, hypotonia, hepatomegaly, and severe developmental delay. Two patients had intracranial hemorrhage secondary to a vitamin K-responsive clotting defect; both had steatorrhea. Liver biopsy specimens in two children showed an accentuated lobular architecture with prominent fibrous bands in the portal area. In one, the ultrastructure showed accumulation of abnormal substances and occasional trilaminar structures in hepatocytes and other cells. All four patients had elevated serum phytanic acid concentrations (0.3 to 2.7 mg/dl, normal <0.2 mg/dl) and deficient fibroblast phytanic acid oxidase activity (0.1 to 6.7 pmol/mg protein/hr, normal 23 to 87 pmol/mg protein/hr). Serum pipecolic acid was 7 to 55 times normal, and the ratio of C26/C22 very long chain fatty acids was increased (0.10 to 0.22; normal <0.03). This characteristic syndrome has been described in several children and called infantile Refsum disease or phytanic acid storage disease. Its relationship to neonatal adrenoleukodystrophy, hyperpipecolic acidemia, and Zellweger syndrome is discussed.
AB - We describe a relatively new syndrome in four children with characteristic facial dysmorphism, sensorineural hearing loss, severe visual impairment with retinitis pigmentosa, hypotonia, hepatomegaly, and severe developmental delay. Two patients had intracranial hemorrhage secondary to a vitamin K-responsive clotting defect; both had steatorrhea. Liver biopsy specimens in two children showed an accentuated lobular architecture with prominent fibrous bands in the portal area. In one, the ultrastructure showed accumulation of abnormal substances and occasional trilaminar structures in hepatocytes and other cells. All four patients had elevated serum phytanic acid concentrations (0.3 to 2.7 mg/dl, normal <0.2 mg/dl) and deficient fibroblast phytanic acid oxidase activity (0.1 to 6.7 pmol/mg protein/hr, normal 23 to 87 pmol/mg protein/hr). Serum pipecolic acid was 7 to 55 times normal, and the ratio of C26/C22 very long chain fatty acids was increased (0.10 to 0.22; normal <0.03). This characteristic syndrome has been described in several children and called infantile Refsum disease or phytanic acid storage disease. Its relationship to neonatal adrenoleukodystrophy, hyperpipecolic acidemia, and Zellweger syndrome is discussed.
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U2 - 10.1016/S0022-3476(86)80765-X
DO - 10.1016/S0022-3476(86)80765-X
M3 - Article
C2 - 2418187
AN - SCOPUS:0022654796
SN - 0022-3476
VL - 108
SP - 33
EP - 39
JO - The Journal of pediatrics
JF - The Journal of pediatrics
IS - 1
ER -