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Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children.
J Pediatr. 1986 Jan; 108(1):33-9.JPed

Abstract

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 less than 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 less than 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.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

2418187

Citation

Budden, S S., et al. "Dysmorphic Syndrome With Phytanic Acid Oxidase Deficiency, Abnormal Very Long Chain Fatty Acids, and Pipecolic Acidemia: Studies in Four Children." The Journal of Pediatrics, vol. 108, no. 1, 1986, pp. 33-9.
Budden SS, Kennaway NG, Buist NR, et al. Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. J Pediatr. 1986;108(1):33-9.
Budden, S. S., Kennaway, N. G., Buist, N. R., Poulos, A., & Weleber, R. G. (1986). Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. The Journal of Pediatrics, 108(1), 33-9.
Budden SS, et al. Dysmorphic Syndrome With Phytanic Acid Oxidase Deficiency, Abnormal Very Long Chain Fatty Acids, and Pipecolic Acidemia: Studies in Four Children. J Pediatr. 1986;108(1):33-9. PubMed PMID: 2418187.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. AU - Budden,S S, AU - Kennaway,N G, AU - Buist,N R, AU - Poulos,A, AU - Weleber,R G, PY - 1986/1/1/pubmed PY - 1986/1/1/medline PY - 1986/1/1/entrez SP - 33 EP - 9 JF - The Journal of pediatrics JO - J Pediatr VL - 108 IS - 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 less than 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 less than 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. SN - 0022-3476 UR - https://wwww.unboundmedicine.com/medline/citation/2418187/Dysmorphic_syndrome_with_phytanic_acid_oxidase_deficiency_abnormal_very_long_chain_fatty_acids_and_pipecolic_acidemia:_studies_in_four_children_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-3476(86)80765-X DB - PRIME DP - Unbound Medicine ER -