(redirected from Hyperpipecolic acidemia)


(hī'pĕr-pip'ĕ-kō'lă-mē-ă), [MIM*239400]
A metabolic disorder in which serum concentration of pipecolic acid is greatly increased; characterized by hepatomegaly and progressive generalized demyelination of the nervous system.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
The determination of plasma or urine PA is also becoming increasingly more important because of several recent reports of isolated hyperpipecolic acidemia cases, which suggest that hyperpipecolic acidemia should be classified as a single peroxisomal enzyme deficiency (8-10).
Hyperpipecolic acidemia: clinical and biochemical observations in two male siblings.