Folling syndrome (phenylketonuria; phenylpyruvic oligophrenia; ikiotia phenylketonuria syndrome) 4

General: Rare; autosomal recessive; phenylalanine cannot be c 313d34d onverted to tyrosine; poor prognosis without early diet therapy; both sexes affected.

Ocular: Blue sclera; severe photophobia; corneal opacities; cataracts (controversial); partial ocular albinism; macular atrophy.

Clinical: Phenylketonuria; oligophrenia; partial albinism; muscle hypertonicity; hyper-reflexia of tendons; epilepsy; microcephaly; mousy odor of habitus; fair skin.

Dornguth S, et al. Golgi-Kopsch silver study of the brain of a patient with untreated phenylketonuria, seizures, and cortical blindness. Am J Med Genet 1992; 44:443-448.

Foiling A. Uber Ausscheidung von Phenylbrenztraubensaure in den Ham als Stoffwechselanomalie in Verbindung mit Imbezillitat. Ztschr Physiol Chem 1934; 227:169.

Pitt DB, O'Day J. Phenylketonuria does not cause cataracts. Eur J Pediatr 1991; 150:661-664.

Zeligman I, et al. Macular anetoderma, secondary to lichen sclerosus et atrophicus, acanthosis nigricans and apocrine hydrocystoma in a man with phenylketonuria. Birth Defects 1971; 7:256-258.