Pipecolic acidemia is a very rare
autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosom ...
recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
metabolic disorder
A metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. Metabolic disorders can happen when abnormal chemical reactions in the body alter t ...
that is caused by a
peroxisomal defect.
Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA),
as well as other peroxisomal disorders, including both
infantile
An infant or baby is the very young offspring of human beings. ''Infant'' (from the Latin word ''infans'', meaning 'unable to speak' or 'speechless') is a formal or specialised synonym for the common term ''baby''. The terms may also be used to ...
and
adult Refsum disease,
and
Zellweger syndrome
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies ...
.
The disorder is characterized by an increase in
pipecolic acid
Pipecolic acid (piperidine-2-carboxylic acid) is an organic compound with the formula HNC5H9CO2H. It is a carboxylic acid derivative of piperidine and, as such, an amino acid, although not one encoded genetically. Like many other α-amino acids, p ...
levels in the blood, leading to
neuropathy and
hepatomegaly
Hepatomegaly is the condition of having an enlarged liver. It is a non-specific medical sign having many causes, which can broadly be broken down into infection, hepatic tumours, or metabolic disorder. Often, hepatomegaly will present as an abdo ...
.
See also
*
AASDHPPT
*
PHYH
In enzymology, a phytanoyl-CoA dioxygenase () is an enzyme that catalyzes the chemical reaction
:phytanoyl-CoA + 2-oxoglutarate + O2 \rightleftharpoons 2-hydroxyphytanoyl-CoA + succinate + CO2
The three substrates of this enzyme are phyta ...
References
External links
Amino acid metabolism disorders
Autosomal recessive disorders
Rare diseases
{{genetic-disorder-stub