Abstract
Clinical, biochemical, neuropathological and neurochemical findings in a case of Hartnup syndrome are reported. After initially normal development, the affected girl suffered progressive neuropsychiatric decline with statomotor and mental retardation and intractable seizures and died at the age of 2 years. Postmortem neuropathological and neurochemical investigations showed a combination of extensive neuronal degeneration and cerebral dysmyelination. Pathogenetic hypotheses and the relationship between neuropsychiatric disease and Hartnup syndrome are discussed. Additionally, a fast type bisalbuminaemia present in the girl and her mother is described.
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Arai K, Ishioka N, Huss K, Madison J, Putnam FW (1989) Identical structural changes in inherited albumin variants from different populations. Proc Natl Acad Sci USA 86:434–438
Daute KH, Dietel K, Ebert W (1966) Das Hartnup-Syndrom. Bericht über einen tödlichen Krankheitsverlauf. Z. Kinderheilkd 95:103–113
Denkla WD, Dewey HK (1967) The determination of tryptophan in plasma, liver and urine. J Lab Clin Med 69:160–169
Fine JM, Marneux M, Rochu D (1987) Human albumin genetic variants: an attempt at a classification of European allotypes. Am J Hum Genet 40:278–286
Halvorsen K, Halvorsen S (1961) Hartnup disease. Proc 13th North Pediatr Congr 1961:119–120
Halvorsen K, Halvorsen S (1963) Hartnup disease Pediatrics 31:29–38
Herschkowitz N, McKann GM, Sooter EM (1968) Studies of water soluble lipoprotein in rat brain. J Neurochem 15:161–168
Jepson JB (1978) Hartnup disease. In: Stanbury J, Wyngaarden JB, Fredrickson DS (eds). The metabolic basis of inherited disease, 4th edn. McGraw Hill, New York, 1563–1577
Kullmann K-H, Endres W, Krizinger S, Schmidt H-L (1982) Direkte Bestimmung von Phenylanalin in Serum mittels Derivativspektrophotometrie. J Clin Chem Clin Biochem 20:181–183
Levy HL (1989) Hartnup disorder. In: Stanbury J, Wyngaarden JB, Fredrickson DS (eds) the metabolic basis of inherited disease, 5th edn. McGraw Hill, New York, 2515–2527
Milne MD (1969) Hartnup disease. Biochem J 11:3–4
Milne MD, Crawford MA, Girao CB, Loughridge IW (1960) The metabolic disorder in Hartnup disease. Q J Med 115:407–421
Nutrition Reviews (1984) 42 (7):251–253
Oyanagi K, Takagi M, Kitabatake M, Nakao T (1967) Hartnup disease. Tohoku J Exp Med 91:383–395
Parvy P, Huang Y, Kamoun P (1979) Age related reference values for urinary free amino acids: A simple method of evaluation. J Clin Chem Clin Biochem 17:205–210
Pentschew A (1958) Mangelzustände. In: Scholz W (ed) Handbuch der speziellen pathologischen Anatomie und Histologie, Nervensystem (Vol. 13/II). Springer. Berlin Heidelberg New York, pp 2503–2570
Peters JH, Lin SC, Berridge BJ Jr, Cummings JG, Chao WR (1969) Amino acids, including asparagine and glutamine, in plasma and urine of normal human subjects. Proc. Soc Exp Biol Med 131:281–288
Prensky AL, Nelson JS, Tahmouch AJ (1978) Note on Hartnup disease. Adv Neurol 21:339–343
Scriver CR, Mahon B, Levy HL, Clow CL, Reade TM, Kronick J, Lemieux B, Laberge C (1987) The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet 40 (5):401–412
Siegrist HP, Burkhart T, Steck AJ, Wiesmann U, Herschkowitz NN (1976) Influence of lipids on the activity of cerebroside-sulfotransferase in mouse brain: a comparative study of jimpy and normal mouse brains. J Neurochem 27:599–604
Sogin DC (1976) 2′,3′-cyclic nucleotide 3′-cyclic nucleotide 3′-phosphohydrolase. J Neurochem 27:1333–1337
Tahmoush AJ, Alpers DH, Feigin RD, Armbrustmacher V, Prensky AL (1976) Hartnup disease. Clinical, pathological and biochemical observations. Arch Neurol 33:797–807
Visakorpi JK, Hjelt L, Lahikainen T, Öhman S (1964) Hartnup disease in two siblings. Clinical observations and biochemical studies. Ann Paediatr Fenn 10:42–56
Wong PWK, Lambert AM, Pillai PM, Jones PM (1967) Observations on nicotinic acid therapy in hartnup disease. Arch Dis Child 42:642b
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Schmidtke, K., Endres, W., Roscher, A. et al. Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. Eur J Pediatr 151, 899–903 (1992). https://doi.org/10.1007/BF01954126
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DOI: https://doi.org/10.1007/BF01954126