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Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency

E López-Laso1, J García-Villoria, E Martín

  • 1Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofia, Av. Menéndez Pidal s/n, 14004, Córdoba, Spain. eduardo.lopez.sspa@juntadeandalucia.es

Journal of Inherited Metabolic Disease
|October 25, 2007
PubMed

Insights

Glutaryl-CoA dehydrogenase (GCDH) deficiency can cause late-onset neurological disease, even in seemingly healthy individuals. Early detection and treatment are crucial for managing this rare genetic disorder.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Glutaryl-CoA dehydrogenase (GCDH) deficiency is a rare genetic disorder.
  • Late-onset neurological complications are infrequently reported in GCDH deficiency.

Observation:

  • Two siblings with GCDH deficiency were studied.
  • One sibling presented with classic neurological symptoms; the other, initially asymptomatic, showed academic decline and MRI-diagnosed leukoencephalopathy.

Findings:

  • The asymptomatic sibling exhibited severe leukoencephalopathy and mild cognitive impairments (memory, executive function).
  • This case highlights the potential for subclinical neurological disease in GCDH deficiency.

Implications:

  • Routine family screening for GCDH deficiency can uncover asymptomatic cases with developing neurological changes.
  • Early dietary intervention and L-carnitine supplementation are recommended for all diagnosed patients to manage neurological risks.

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