“Amino- und Organoazidurien”

Neurological manifestation without classical onset
Late-onset type
Manifestation of neurological symptoms in adolescents or adults that had no
reported encephalopathic crisis and have been asymptomatic before.
•First report in 2002 (Bähr et al. 2002)
•10 reported cases (Bähr et al. 2002; Külkens et al. 2005; Kölker et al. 2006)
•Characteristics:
- Clinical presentation: (severe) headaches, slowing of fine motor functions
(hands), tremor, gait disturbance due to ataxia and/or vertigo
- Partial or complete recovery following carnitine supplementation and reduction
of protein intake
- MRI: Leukoencephalopathy (à this will be further elucidated by Inga Harting)
•White matter changes (spongiform myelinopathy) is also found in patients with classiconset
type, asymptomatic patients and in Gcdh -/- mice (progresses with age)
Is late-onset type a variant form or does it reflect progressive changes of a
different pathology in neurons and oligodendrocytes of older patients?
à Relevance for pathophysiological understanding and for treatment