European Journal of Pediatrics

, Volume 143, Issue 4, pp 301–303 | Cite as

3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency

  • W. Lehnert
  • J. Scharf
  • U. Wendel
Short Communications

Abstract

A girl suffering from marked muscular hypotonia, severe statomotor and mental retardation, bilateral optic atrophy with chorioretinal degeneration, convulsions and a moderate compensated metabolic acidosis is described. Screening for metabolic disorders revealed massive 3-methylglutaconic with 3-methylglutaric aciduria leading to the tentative diagnosis of 3-methylglutaconyl-CoA hydratase deficiency. Metabolite excretion was correlated with variation of leucine intake. 3-methyl-3-hydroxyglutaryl-CoA lyase activity in cultured fibroblasts was normal. The suspected metabolic defect was not demonstrable in cultured skin fibroblasts, however.

Key words

3-methylglutaconyl-CoA hydratase deficiency Organic aciduria 3-methylglutaconic acid 3-methylglutaric acid 

Abbreviation

MSUD

Maple syrup urine disease

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Copyright information

© Springer-Verlag 1985

Authors and Affiliations

  • W. Lehnert
    • 1
  • J. Scharf
    • 2
  • U. Wendel
    • 3
  1. 1.Children's HospitalUniversity of FreiburgFreiburgFederal Republic of Germany
  2. 2.Children's HospitalUniversity of Erlangen-NürnbergErlangenFederal Republic of Germany
  3. 3.Children's HospitalUniversity of DüsseldorfDusseldorf 1Federal Republic of Germany

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