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Summary
HYPERPIPECOLATEMIA
239400
OMIM = Online Medalian Inheritance of Men
34
unknown
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.
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
laboratory finding
Pipecolic acid20.0050.000.503.80-Ámol/lplasma
Pipecolic acid0.000.005.0062.00increasedurineinfancy
L-Lysine750.001250.0052.00196.00-Ámol/lplasma
Pipecolic oxidase 100.00decreased activityLiver
Literature
IJlst Let al.3-Methylglutaconic aciduria type I is caused by mutations in AUHAm J Hum Genet7161463-14662002
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991