Abstract
Hyperpipecolic acidaemia (McKusick 23940) has so far been reported in only four patients (Gatfield et al., 1968; Thomas et al., 1975; Burton et al., 1981). The hallmarks of this disorder are delayed development, hepatomegaly, hypotonia, retinopathy and progressive neurological deterioration with death occurring before 2–2½ years of age. Loading tests performed in three of the patients suggested a block in pipecolic acid degradation.
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Wanders, R.J.A. et al. (1988). Peroxisomes and Peroxisomal Functions in Hyperpipecolic Acidaemia. In: Pollitt, R.J., Harkness, R.A., Addison, G.M. (eds) Studies in Inherited Metabolic Disease. Springer, Dordrecht. https://doi.org/10.1007/978-94-009-1259-5_21
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DOI: https://doi.org/10.1007/978-94-009-1259-5_21
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