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Hyperpipecolic acidemia in neonatal adrenoleukodystrophy.

R I Kelley, H W Moser

    American Journal of Medical Genetics
    |December 1, 1984
    PubMed
    Summary
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    Serum pipecolic acid is elevated in neonatal adrenoleukodystrophy (NALD), distinguishing it from other leukodystrophies. This finding suggests generalized peroxisomal dysfunction in NALD, similar to Zellweger syndrome.

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatric Neurology

    Background:

    • Neonatal adrenoleukodystrophy (NALD) is a severe neurological disorder.
    • Peroxisomal dysfunction is implicated in certain leukodystrophies.
    • Zellweger syndrome and NALD share some clinical and biochemical features.

    Purpose of the Study:

    • To investigate serum pipecolic acid levels in patients with NALD.
    • To differentiate NALD from other leukodystrophies, including X-linked ALD and adrenomyeloneuropathy.
    • To explore the potential for generalized peroxisomal dysfunction in NALD.

    Main Methods:

    • Serum samples were collected from patients diagnosed with NALD, X-linked ALD, adrenomyeloneuropathy, and Zellweger syndrome.
    • Serum pipecolic acid levels were quantified using biochemical assays.

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  • Comparison of pipecolic acid levels was made against healthy controls and children with other neurological disorders.

    • Main Results:

    • Markedly elevated serum pipecolic acid was observed in most NALD patients.
    • Pipecolic acid levels were normal in patients with X-linked ALD, adrenomyeloneuropathy, and Zellweger syndrome.
    • Elevated pipecolic acid was not detected in healthy individuals or children with cirrhosis or other neurodegenerative conditions.

    Conclusions:

    • Elevated serum pipecolic acid is a potential biomarker for NALD.
    • The findings support the hypothesis of generalized peroxisomal dysfunction in NALD.
    • This biochemical marker aids in the nosologic classification and understanding of NALD.