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Pyruvate dehydrogenase E3 deficiency

Synonyms
DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; DLD DEFICIENCY; Dihydrolipoamide Dehydrogenase (E3) Deficiency; Dihydrolipoamide Dehydrogenase E3 Deficiency; E3 DEFICIENCY; Lipoamide dehydrogenase deficiency; Lipoamide dehydrogenase deficiency, lactic acidosis due to; MAPLE SYRUP URINE DISEASE, TYPE III; Maple syrup urine disease, type 3
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Dihydrolipoamide Dehydrogenase Deficiency
The phenotypes of dihydrolipoamide dehydrogenase (DLD) deficiency are an overlapping continuum that ranges from early-onset neurologic manifestations to adult-onset liver involvement and, rarely, a myopathic presentation. Early-onset DLD deficiency typically manifests in infancy as hypotonia with lactic acidosis. Affected infants frequently do not survive their initial metabolic decompensation, or die within the first few years of life during a recurrent metabolic decompensation. Children who live beyond the first two to three years frequently exhibit growth deficiencies and residual neurologic deficits (intellectual disability, spasticity, ataxia, and seizures). In contrast, isolated liver involvement can present as early as the neonatal period and as late as the third decade. Evidence of liver injury/failure is preceded by nausea and emesis and frequently associated with encephalopathy and/or coagulopathy. Acute metabolic episodes are frequently associated with lactate elevations, hyperammonemia, and hepatomegaly. With resolution of the acute episodes affected individuals frequently return to baseline with no residual neurologic deficit or intellectual disability. Liver failure can result in death, even in those with late-onset disease. Individuals with the myopathic presentation may experience muscle cramps, weakness, and an elevated creatine kinase.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Shane C Quinonez
Jess G Thoene
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Available tests

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Clinical tests (105 available)

Biochemical Genetics Tests

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  • Also known as: DLDD, DLDH, E3, GCSL, LAD, OGDC-E3, PHE3, DLD
    Summary: dihydrolipoamide dehydrogenase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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