HYPERPIPECOLATEMIA

Question 1

What is  HYPERPIPECOLATEMIA?

Accepted Answer

rare
autosomal recessive
allelic with Zellweger syndrome ? There is evidence, that this is a symptom of Zellweger Syndrome and not a defined disease. It is also observed in familial hyperlysinemia.
-> Removed from OMIM database

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Pipecolin-Azidämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 239400

Question 4

Which enzymes are involved?

Accepted Answer

peroxisomal disorder, pipicolic acid oxidase

Disease	HYPERPIPECOLATEMIA
OMIM	239400 OMIM = Online Mendelian Inheritance of Men
Orphanet	34
Gene locus	unknown
ICD
Summary	rare autosomal recessive allelic with Zellweger syndrome ? There is evidence, that this is a symptom of Zellweger Syndrome and not a defined disease. It is also observed in familial hyperlysinemia. -> Removed from OMIM database
Laboratory findings	L-Lysine inc (plasma) Pipecolic acid inc (plasma) Pipecolic acid inc (urine) Pipecolic oxidase dec (Liver)
Symptoms	Amino acids, plasma dysmorphism early death hearing defect, deafness hepatomegaly (large liver) hypotonia mental retardation neurological deterioration nystagmus onset, neonatal optic atrophy retinitis pigmentosa seizures