Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease

George H. Thomas, Robert H.A. Haslam, Mark L. Batshaw, Arnold J. Capute, Lee Neidengard, J. Lawrence Ransom

Research output: Contribution to journalArticle

Abstract

A male infant with hyperpipecolic acidemia is described. To our knowledge this is only the second report of this disorder. As with the previous case, our patient's course was characterized by persistent hepatomegaly, severe mental retardation, progressive loss of developmental milestones and diminished visual acuity associated with nystagmus, abnormal discs and retinal changes. Death occurred at 2 years of age, following a progressive loss of neurological function. Pipecolic acid was repeatedly present in the serum at a concentration of 4–5 mg %. Trace amounts of this compound were also detected in the urine. In addition, an adaption of the method of Piez et al. (1956) for the direct quantitation of pipecolic acid in serum was evaluated and found to be very useful for the biochemical diagnosis of this disorder.

Original languageEnglish (US)
Pages (from-to)376-382
Number of pages7
JournalClinical Genetics
Volume8
Issue number5
DOIs
StatePublished - Nov 1975

    Fingerprint

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this