Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders. [books.google.com]

Peroxisomal disease--common ground for pediatrician, cell biologist, biochemist, pathologist, and neurologist. Clin Pediatr (Phila). 1999 Feb. 38(2):73-5. [Medline]. Schram AW, Goldfischer S, van Roermund CW, et al. [emedicine.medscape.com]

Treatment - Refsum disease with increased pipecolic acidemia Phytanic acid is almost exclusively of exogenous origin, and dietary restriction reduces plasma and tissue levels.5 Fish, beef, lamb and dairy products should be avoided.22 The average daily [checkorphan.org]

Dairy products, meat, ruminant fats, and fish are rich sources of phytanic acid. [ommbid.mhmedical.com]

Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. [blueprintgenetics.com]

We describe a relatively new syndrome in four children with characteristic facial dysmorphism, sensorineural hearing loss, severe visual impairment with retinitis pigmentosa, hypotonia, hepatomegaly, and severe developmental delay. [ohsu.pure.elsevier.com]

An increase of this molecule in the blood may lead to hepatomegaly, neuropathty, and progressive, generalised demyelination of the nervous system. The condition is inherited in an autosomal recessive pattern. [biology-online.org]

Abstract We describe a relatively new syndrome in four children with characteristic facial dysmorphism, sensorineural hearing loss, severe visual impairment with retinitis pigmentosa, hypotonia, hepatomegaly, and severe developmental delay. [wwww.unboundmedicine.com]

(redirected from Pipecolic acidemia ) Also found in: Wikipedia. hy·per·pip·e·co·la·te·mi·a ( hī'pĕr-pip'ĕ-kō'lă-mē-ă ), [MIM*239400] A metabolic disorder in which serum concentration of pipecolic acid is greatly increased; characterized by hepatomegaly [medical-dictionary.thefreedictionary.com]

We describe a relatively new syndrome in four children with characteristic facial dysmorphism, sensorineural hearing loss, severe visual impairment with retinitis pigmentosa, hypotonia, hepatomegaly, and severe developmental delay. [ohsu.pure.elsevier.com]

Abstract We describe a relatively new syndrome in four children with characteristic facial dysmorphism, sensorineural hearing loss, severe visual impairment with retinitis pigmentosa, hypotonia, hepatomegaly, and severe developmental delay. [wwww.unboundmedicine.com]

J Pediatr 1986 Jan;108(1):33-9 We describe a relatively new syndrome in four children with characteristic facial dysmorphism, sensorineural hearing loss, severe visual impairment with retinitis pigmentosa, hypotonia, hepatomegaly, and severe developmental [pubfacts.com]

abnormalities * Epiphyseal dysplasia * Clawfoot * Short metacarpal bones * Short metatarsal bones * Cardiomyopathy * Low blood cholesterol * Increased blood phytanic acid level * Thickened nerve sheath * Peripheral neuropathy * Increased protein level [checkorphan.org]

Symptoms - Refsum disease with increased pipecolic acidemia * Progressive nerve deafness * Reduced visual fields * Night blindness * Chronic polyneuropathy * Cerebellar ataxia * Loss of sense of smell * Dry scaly skin * Progressive loss of vision * Pupillary [checkorphan.org]

Two patients had intracranial hemorrhage secondary to a vitamin K-responsive clotting defect; both had steatorrhea. Liver biopsy specimens in two children showed an accentuated lobular architecture with prominent fibrous bands in the portal area. [ohsu.pure.elsevier.com]

Relationship to the acquired aphasia-epilepsy syndrome. Neuropediatrics 24: 83-87. ‏ الصفحة 40 - The development of the electroencephalogram in normal children from the age of 1 through 15 years: paroxysmal activity. ‏ [books.google.com]

Relationship to the acquired aphasia-epilepsy syndrome. Neuropediatrics 24: 83-87. ‎ Pagina 40 - The development of the electroencephalogram in normal children from the age of 1 through 15 years: paroxysmal activity. ‎ [books.google.ro]

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* Increased blood phytanic acid level * Thickened nerve sheath * Peripheral neuropathy * Increased protein level in cerebrospinal fluid * Rapid involuntary eye movements * Hypertrophic neuropathy * Cataracts * Neurological deterioration Causes - Refsum [checkorphan.org]

Liver biopsy specimens in two children showed an accentuated lobular architecture with prominent fibrous bands in the portal area. [ohsu.pure.elsevier.com]

However, peroxisomes appear normal on liver biopsy. Peroxisomal thiolase deficiency, or pseudo-ZWS, is believed to be a subgroup of D-bifunctional protein deficiency. [emedicine.medscape.com]