Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: Studies in four children

Sarojini S. Budden, Nancy G. Kennaway, Neil R M Buist, A. Poulos, Richard Weleber

Research output: Contribution to journalArticle

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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 26/C22 very long chain fatty acids was increased (0.10 to 0.22; normal

Original languageEnglish (US)
Pages (from-to)33-39
Number of pages7
JournalThe Journal of Pediatrics
Volume108
Issue number1
DOIs
StatePublished - 1986

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Refsum Disease
Fatty Acids
Phytanic Acid
Steatorrhea
Muscle Hypotonia
Retinitis Pigmentosa
Hepatomegaly
Vitamin K
Intracranial Hemorrhages
Sensorineural Hearing Loss
Vision Disorders
Hepatocytes
Biopsy
Liver
Serum

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia : Studies in four children. / Budden, Sarojini S.; Kennaway, Nancy G.; Buist, Neil R M; Poulos, A.; Weleber, Richard.

In: The Journal of Pediatrics, Vol. 108, No. 1, 1986, p. 33-39.

Research output: Contribution to journalArticle

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