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Elevated circulating pristanic acid concentration

MedGen UID:
1841839
Concept ID:
C5826613
Finding
HPO: HP:0034721

Definition

Concentration of pristanic acid in the blood circulation above the upper limit of normal. [from HPO]

Term Hierarchy

Conditions with this feature

Sterol carrier protein 2 deficiency
MedGen UID:
462340
Concept ID:
C3150990
Disease or Syndrome
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.

Recent clinical studies

Etiology

Wright ME, Albanes D, Moser AB, Weinstein SJ, Snyder K, Männistö S, Gann PH
Cancer Med 2014 Dec;3(6):1562-9. Epub 2014 Aug 16 doi: 10.1002/cam4.319. PMID: 25132681Free PMC Article

Therapy

Wright ME, Albanes D, Moser AB, Weinstein SJ, Snyder K, Männistö S, Gann PH
Cancer Med 2014 Dec;3(6):1562-9. Epub 2014 Aug 16 doi: 10.1002/cam4.319. PMID: 25132681Free PMC Article

Clinical prediction guides

Wright ME, Albanes D, Moser AB, Weinstein SJ, Snyder K, Männistö S, Gann PH
Cancer Med 2014 Dec;3(6):1562-9. Epub 2014 Aug 16 doi: 10.1002/cam4.319. PMID: 25132681Free PMC Article

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