Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects

Journal of Medical Genetics

Volumn 40, Issue 11, 2003, Pages

  Zannolli, R ^a   Micheli, V ^a   Mazzei, M A ^a   Sacco, P ^a   Piomboni, P ^a   Bruni, E ^a   Miracco, C ^a   De Santi, M M ^a   Vagnoli, P Terrosi ^a   Volterrani, L ^a   Pellegrini, L ^a   Livi, W ^a   Lucani, B ^a   Gonnelli, S ^a   Burlina, A B ^b   Jacomelli, G ^a   Macucci, F ^a   Pucci, L ^a   Fimiani, M ^a   Swift, J A ^c   Zappella, M ^d   Morgese, G ^a   more..

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^c UNIVERSITY OF LIVERPOOL   (United Kingdom)

^d UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ABDOMINAL RADIOGRAPHY; AGGRESSIVENESS; ANGER; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CASE REPORT; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; ECHOGRAPHY; HAIR DISEASE; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HUMAN; HYPERTRICHOSIS; HYPODONTIA; KIDNEY CALCIFICATION; KIDNEY CYST; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPENIA; PRIORITY JOURNAL; SCHOOL CHILD; TOOTH DISEASE; TRICHOTHIODYSTROPHY; XANTHINURIA; CLINICAL TRIAL; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; GENETICS; HAIR; KIDNEY POLYCYSTIC DISEASE; METABOLIC BONE DISEASE; MULTICENTER STUDY; TOOTH MALFORMATION; URINE;

XANTHINE DERIVATIVE;

AUTISTIC DISORDER; BONE DISEASES, METABOLIC; CHILD; DEVELOPMENTAL DISABILITIES; HAIR; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; NEPHROCALCINOSIS; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS; TOOTH ABNORMALITIES; XANTHINES;

EID: 1542543326     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.40.11.e121     Document Type: Article

References (22)

1. Raivio KO, Saksela M, Lapatto R. Xanthine oxidoreductase - Role in human pathophysiology and hereditary xanthinuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. New York: McGraw Hill, 2001:2653–62.
2. Ichida K, Matsumura T, Sakuma R, Hosoya T, Nishino T. Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. Biochem Biophys Res Commun 2001;282:1194–200.
3. American Psychiatric Association. Diagnostic and statistical manual of mental disorders, 4th ed. Washington, DC: DSM-IV, 1994.
4. Krug DA, Arick JR, Almond PJ. Autism screening instrument for educational planning: background and development. In: Gillan J, ed. Autism: diagnosis, instruction, management and research. Austin: University of Texas, 1979:71–89.
5. Mercado-Deane MG, Beeson JE, John SD. US of renal insufficiency in neonates. Radiographics 2002;22:1429–38.
6. Yamamoto T, Higashino K, Kono N, Kawachi M, Nanahoshi M, Takahashi S, Suda M, Hada T. Metabolism of pyrazinamide and allopurinol in hereditary xanthine oxidase deficiency. Clin Chim Acta 1989;180:169–75.
7. Kress BC, Mizrahi IA, Armour KW, Marcus R, Emkey RD, Santora AC 2nd. Use of bone alkaline phosphatase to monitor alendronate therapy in individual postmenopausal osteoporotic women. Clin Chem 1999;45:1009–17.
8. Page T, Coleman M. Purine metabolism abnormalities in a hyperuricosuric subclass of autism. Biochim Biophys Acta 2000;1500:291–6.
9. Van den Berghe G, Jaeken J. Adenylosuccinate lyase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. New York: McGraw Hill, 2001:2653–62.
10. De Volder AG, Jaeken J, Van den Berghe G, Bol A, Michel C, Cogneau M, Goffinet AM. Regional brain glucose utilization in adenylosuccinase-deficient patients measured by positron emission tomography. Pediatr Res 1988;24:238–42.
11. Sener RN. A patient with ectodermal dysplasia, Joubert’s syndrome, and brain cysts. Comput Med Imaging Graph 1998;22:349–51.
12. Celebi JT, Tanzi EL, Yao YJ, Michael EJ, Peacocke M. Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. J Invest Dermatol 1999;113:848–50.
13. Zannolli R, Mostardini R, Pucci L, Sorrentino L, Biagioli M, Perotti R, Guarna M, Hadjistilianou T, Zerega G, Pierluigi M, Franco B, D’Ambrosio A, Morgese G. Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;14) (pter;q11.2)]. Am J Med Genet 2001;102:29–35.
14. Khoury Z, Brezis M, Mogle P. Familial medullary sponge kidney in association with congenital absence of teeth (anodontia). Nephron 1988;48:231–3.
15. Kessel D, Hall CM, Shaw DG. Two unusual cases of nephrocalcinosis in infancy. Pediatr Radiol 1992;22:470–1.
16. Moudgil A, Rodich G, Jordan SC, Kamil ES. Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. Pediatr Nephrol 2000;15:60–2.
17. Zannolli R, Inchingolo G, Serracca L, Miracco C, De Santi MM, Malandrini A, Biagioli M, Perotti R, Baldi C, Nuti D, Polito E, Gonnelli S. Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia. Am J Med Genet 2002;113:111–13.
18. Zannolli R, Conversano E, Serracca L, Di Bartolo RM, Molinelli M, Galluzzi P, Mazzei MA, Terrosi-Vagnoli P, Miracco C, De Santi MM, Vatti G, Coviello G, Malandrini A, Gonnelli S, Alessandrini C, Fimiani M. Cortical periventricular heterotopia with ectodermal dysplasia. Am J Med Genet 2002;113:385–9.
19. Zannolli R, Pierluigi M, Pucci L, Lagrasta N, Gasparre O, Matera MR, Di Bartolo RM, Mazzei MA, Sacco P, Miracco C, de Santi MM, Aitiani P, Cavani S, Pellegrini L, Fimiani M, Alessandrini C, Galluzzi P, Livi W, Gonnelli S, Terrosi-Vagnoli P, Zappella M, Morgese G. 18q-syndrome and ectodermal dysplasia syndrome: Description of a child and his family. Am J Med Genet 2003;116:192–9.
20. Zannolli R, Macucci F, Di Bartolo RM, Serracca L, Miracco C, de Santi MM, Giannini F, Malandrini A, Galluzzi P, De Robertis S, Hadjistilianou T, Perotti R, Fimiani M, Doldo T, Giorgetti R, Cavani S, Pierluigi M. Novel CNS syndrome and ectodermal dysplasia. Am J Med Genet 2003;116:385–389.
21. Priolo M, Silengo M, Lerone M, Ravazzolo R. Ectodermal dysplasias: not only ‘skin’ deep. Clin Genet 2000;58:415–30.
22. Priolo M, Lagana C. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet 2001;38:579–85.