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J R Soc Med. 1983 September; 76(9): 736–739.
PMCID: PMC1439397

Family exhibiting cerebellar-like ataxia, photosensitivity and shortness of stature - a new inborn error of tryptophan metabolism.

Abstract

Two cases in a brother and sister of a previously undescribed hereditary syndrome are reported. The features, which include shortness of stature, photosensitivity and cerebellar-like ataxia, are attributed to a new inborn error of tryptophan metabolism.

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Selected References

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  • BARON DN, DENT CE, HARRIS H, HART EW, JEPSON JB. Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. Lancet. 1956 Sep 1;271(6940):421–428. [PubMed]
  • Bloom D. The syndrome of congenital telangiectatic erythema and stunted growth. J Pediatr. 1966 Jan;68(1):103–113. [PubMed]
  • ROOK A, DAVIS R, STEVANOVIC D. Poikiloderma congenitale; Rothmund-Thomson syndrome. Acta Derm Venereol. 1959;39:392–420. [PubMed]
  • TADA K, ITO H, WADA Y, ARAKAWA T. CONGENITAL TRYPTOPHANURIA WITH DWARFISM ("H" DISEASE-LIKE CLINICAL FEATURES WITHOUT INDICANURIA AND GENERALIZED AMINOACIDURIA):--A PROBABLY NEW INBORN ERROR OF TRYPTOPHAN METABOLISM. Tohoku J Exp Med. 1963 Jul 25;80:118–134. [PubMed]

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