Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

Hyperpipecolic Acidemia

Known as: Hyperpipecolatemia, Hyperpipecolic Acidemias, Acidemias, Hyperpipecolic 
A rare, autosomal recessive inherited metabolic disorder characterized by high levels of pipecolic acid in the blood, leading to neuropathy and… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2004
Review
2004
A new group of genetic diseases, in which peroxisomal functions are impaired, has recently been recognised. Although peroxisomes… Expand
  • table 1
  • table 4
2001
2001
In mammals, L-lysine is first catabolized to alpha-aminoadipate semialdehyde by the bifunctional enzyme alpha-aminoadipate… Expand
Highly Cited
1988
Highly Cited
1988
We have used complementation analysis after somatic cell fusion to investigate the genetic relationships among various genetic… Expand
  • figure 1
  • figure 2
  • figure 3
  • table I
  • figure 4
Review
1987
Review
1987
  • N. Gordon
  • Brain and Development
  • 1987
  • Corpus ID: 4706099
The different types of adrenoleukodystrophy are considered with their clinical and biochemical features, particularly the excess… Expand
Highly Cited
1986
Highly Cited
1986
We describe a relatively new syndrome in four children with characteristic facial dysmorphism, sensorineural hearing loss, severe… Expand
1986
1986
Increased levels of pipecolic acid have been reported in patients with cerebro-hepato-renal syndrome (CHRS) of Zellweger and the… Expand
1983
1983
Pipecolic acid is a cyclic secondary imino acid produced in the metabolism of lysine. The metabolic role and fate of pipecolic… Expand
Highly Cited
1978
Highly Cited
1978
  • Y. Chang
  • Journal of neurochemistry
  • 1978
  • Corpus ID: 30783605
Through the use of intravenous pulse injection of L‐[U‐14C] lysine, the blood‐brain barrier transport of L‐lysine was studied… Expand
Highly Cited
1975
Highly Cited
1975
A male infant with hyperpipecolic acidemia is described. To our knowledge this is only the second report of this disorder. As… Expand