Rett Syndrome Revisited: a Patient with Biotin Dependency

Overview

Journal Eur J Pediatr

Specialty Pediatrics

Date 1986 Apr 1

PMID 3709567

Citations 2

Authors

C Bachmann

J Schaub

J P COLOMBO

B J Burri

L Sweetman

B Wolf

Affiliations

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Abstract

A patient with Rett syndrome (cerebral atrophy associated with hyperammonemia) was studied. Primary defects of urea cycle enzymes were excluded as causes of the disorder. The analysis of urinary organic acids showed a moderate increase of lactate, methylcitrate, tiglyglycine and 3-hydroxisovalerate, indicating an abnormality of multiple carboxylases. Biotin supplementation reversed the urinary abnormalities. In fibroblasts grown with a low biotin medium propionylCoA and 3-methylcrotonylCoA carboxylase activities were reduced. Holocarboxylase synthetase activity was normal (Vmax and Km). Surprisingly the biotinidase in fibroblasts was not decreased. The data indicate that some patients with Rett syndrome might suffer from a biotin-dependent defect of unknown nature.

Citing Articles

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PMID: 3286631 DOI: 10.1007/BF00768393.

Metabolic investigation of a patient with Rett syndrome.

Vles J, Spaapen L, Schrander-Stumpel C, van der Meer S Eur J Pediatr. 1989; 148(8):786.

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References

Schubiger G, Caflisch U, Baumgartner R, Suormala T, Bachmann C . Biotinidase deficiency: clinical course and biochemical findings. J Inherit Metab Dis. 1984; 7(3):129-30. DOI: 10.1007/BF01801771. View

Thoene J, Lemons R, Baker H . Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency. N Engl J Med. 1983; 308(11):639-42. DOI: 10.1056/NEJM198303173081107. View

Bachmann C, Buhlmann R, COLOMBO J . Organic acids in urine: sample preparation for GC/MS. J Inherit Metab Dis. 1984; 7 Suppl 2:126. DOI: 10.1007/978-94-009-5612-4_37. View

Burri B, Sweetman L, Nyhan W . Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Am J Hum Genet. 1985; 37(2):326-37. PMC: 1684574. View

RETT A . [On the diagnosis and therapy of metabolic brain damage in childhood]. Wien Med Wochenschr. 1969; 119(11):205-8. View

Baumgartner R, Suormala T, Wick H, Geisert J, Lehnert W . Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin. Helv Paediatr Acta. 1982; 37(5):499-502. View

RETT A, STOCKL W . [Studies on the ammonia content in the serum of children with brain damage with special reference to hyperammonemia]. Wien Med Wochenschr. 1968; 118(14):311-4. View

Suchy S, McVoy J, Wolf B . Neurologic symptoms of biotinidase deficiency: possible explanation. Neurology. 1985; 35(10):1510-1. DOI: 10.1212/wnl.35.10.1510. View

Hagberg B, Aicardi J, Dias K, Ramos O . A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol. 1983; 14(4):471-9. DOI: 10.1002/ana.410140412. View

10.

Wolf B, Secor McVoy J . A sensitive radioassay for biotinidase activity: deficient activity in tissues of serum biotinidase-deficient individuals. Clin Chim Acta. 1983; 135(3):275-81. DOI: 10.1016/0009-8981(83)90286-3. View

11.

Di Rocco M, Superti-Furga A, Durand P, Cerone R, Romano C, Bachmann C . Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency. J Inherit Metab Dis. 1984; 7 Suppl 2:119-20. DOI: 10.1007/978-94-009-5612-4_34. View

12.

GIORGIO A, WHITAKER T . Some properties of propionyl CoA carboxylase partially purified from human liver. Biochem Med. 1973; 7(3):473-8. DOI: 10.1016/0006-2944(73)90069-0. View

13.

Thoene J, Wolf B . Biotinidase deficiency in juvenile multiple carboxylase deficiency. Lancet. 1983; 2(8346):398. DOI: 10.1016/s0140-6736(83)90364-1. View

14.

Bachmann C, COLOMBO J . Diagnostic value of orotic acid excretion in heritable disorders of the urea cycle and in hyperammonemia due to organic acidurias. Eur J Pediatr. 1980; 134(2):109-13. DOI: 10.1007/BF01846026. View

15.

Bachmann C, COLOMBO J, Beruter J . Short chain fatty acids in plasma and brain: quantitative determination by gas chromatography. Clin Chim Acta. 1979; 92(2):153-9. DOI: 10.1016/0009-8981(79)90109-8. View