Literature DB >> 4029957

Maple syrup urine disease: two different forms within a single family.

J Frézal, O Amédée-Manesme, G Mitchell, S Heuertz, F Rey, J Rey, J M Saudubray.   

Abstract

A family is reported in which the index case presented with an acute form of maple syrup urine disease (MSUD), whereas two of her sisters and her father were found to have an almost asymptomatic form of the disease. It is proposed that the members of this family are compound heterozygotes for the classical deficient mutant gene and for a "variant" allele.

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Year:  1985        PMID： 4029957     DOI： 10.1007/bf00295676

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  18 in total

1.  [An exceptional case of a family suffering from metachromatic leukocystrophy. Very low level of arylsulfatase A and cerebroside sulfate sulfatase in healthy subjects].

Authors:  J C Turpin; C Bergondi; H Haidar; G Dubois
Journal:  Nouv Presse Med       Date:  1977-04-16

2.  Study of a family with both galactosemic and Duarte variants of galactose-1-phospho uridyl transferase.

Authors:  F Schapira; C Gregori; L Poenaru
Journal:  Biochem Med       Date:  1974-09

3.  Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

Authors:  R Navon; B Padeh; A Adam
Journal:  Am J Hum Genet       Date:  1973-05       Impact factor: 11.025

4.  Absence of hexosaminidase A and B in a normal adult.

Authors:  J C Dreyfus; L Poenaru; L Svennerholm
Journal:  N Engl J Med       Date:  1975-01-09       Impact factor: 91.245

5.  Adult GM2 gangliosidosis in association with Tay-Sachs disease: a new phenotype.

Authors:  R Navon; Z Argov; N Brand; U Sandbank
Journal:  Neurology       Date:  1981-11       Impact factor: 9.910

6.  Maple syrup urine disease: branched-chain keto acid decarboxylation in fibroblasts as measured with amino acids and keto acids.

Authors:  J Dancis; J Hutzler; R P Cox
Journal:  Am J Hum Genet       Date:  1977-05       Impact factor: 11.025

7.  Apparent hexosaminidase B deficiency in two healthy members of a pedigree.

Authors:  P Hechtman; A Rowlands
Journal:  Am J Hum Genet       Date:  1979-07       Impact factor: 11.025

8.  Detection of heterozygotes in maple-syrup-urine disease: measurements of branched-chain alpha-ketoacid dehydrogenase and its components in cell cultures.

Authors:  D T Chuang; L S Ku; D S Kerr; R P Cox
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

9.  Variant maple syrup urine disease in mother and daughter.

Authors:  L A Zaleski; J Dancis; R P Cox; J Hutzler; W A Zaleski; A Hill
Journal:  Can Med Assoc J       Date:  1973-08-18       Impact factor: 8.262

10.  Activities of branched-chain 2-oxo acid dehydrogenase and its components in skin fibroblasts from normal and classical-maple-syrup-urine-disease subjects.

Authors:  D T Chuang; W L Niu; R P Cox
Journal:  Biochem J       Date:  1981-10-15       Impact factor: 3.857
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  2 in total

1.  Two different forms of maple syrup urine disease in a single family.

Authors:  U Langenbeck
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

2.  The phenotype of adult versus pediatric patients with inborn errors of metabolism.

Authors:  Jean-Marie Saudubray; Fanny Mochel
Journal:  J Inherit Metab Dis       Date:  2018-06-06       Impact factor: 4.982
  2 in total

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