Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26-02-2009
Symbol DLDD
Location 7q31.1
Name dihydrolipoamide dehydrogenase deficiency
Other name(s)
  • maple syrup disease, type III
    • Corresponding gene DLD
    Other symbol(s) PHE3, MSUD3
    Main clinical features
  • E3-deficient with lactic acidosis form of maple syrup disease
  • lactate acidosis, congenital, with elevated branched chain aminoacids
  • presenting as Leigh syndrome characterized by lactate acidosis bilaterally symmetrical necrotic lesions in the brainstem, basal ganglia, thalamus and spinal cord, occuring predominantly in infants
  • mental and physical retardation, feeding problems, and a maple syrup odor to the urine.
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name dihydrolipoyl dehydrogenase, E3 component of pyruvate, 2-oxo-ketoglutarate and branched chain keto acid dehydrogenase complexes (DLD)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   abnormal protein/gain of function less than twenty independent mutations currently described
    Remark(s)