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Pipecolic Acidemia

Hyperpipecolatemia


Presentation

  • Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments[books.google.com]
  • Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism.[books.google.ro]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
  • The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy.[books.google.ro]
  • ''; Biochimie, 2006 PubMed Europe PMC Blau, Nenad, Duran, Marinus, gibson, K.Michael, Dionisi-Vici, Carlo; '' ''Physician's Guidee to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''''';, 2014 Arun P, Moffett JR, Namboodiri AM[wikipathways.org]
Pathologist
  • Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders.[books.google.ro]
  • 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]
Rigor
  • 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]
Steatorrhea
  • 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]
Hepatomegaly
  • 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]
  • Symptoms & Signs Patients have increased pipecolic acid levels in the blood, which leads to neuropathy & hepatomegaly. Causes Peroxisomal defect causes Pipecolic acidemia. Search Related To: pipecolic, acidemia[signssymptoms.org]
  • (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]
Visual Impairment
  • 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]
Night Blindness
  • 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]
Pupillary Abnormality
  • 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]
Progressive Loss of Vision
  • 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]
Photosensitivity
  • […] also called Hyperpipecolic acidemia or… … Wikipedia List of diseases (H) — A list of diseases in the English wikipedia.DiseasesTOC HaHag Ham* Hageman factor deficiency * Hagemoser Weinstein Bresnick syndrome * Hailey Hailey disease * Hair defect with photosensitivity[medicine.academic.ru]
Dry, Scaly Skin
  • 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]
Intracranial Hemorrhage
  • 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]
Aphasia
  • 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]
  • 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]
Cognitive Deficit
  • This approach emphasizes the importance of looking at the other functional impacts of these manifestations (e.g. cognitive deficits secondary to depression, orthodopaedic ambulation issues).[books.google.com]
Forgetful
  • If you like this forum, please don't forget to tell your friends about Forum Jar.[nicehub.com]
Neonatal Seizures
  • The neurologic picture comprises severe psychomotor retardation, profound hypotonia with depressed deep tendon reflexes (DTRs), neonatal seizures, and impaired hearing.[emedicine.medscape.com]

Workup

Cholesterol Increased
  • * 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
  • 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]

Treatment

  • As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment.[books.google.com]
  • If you believe that you are suffering from any of the symptoms of Pipecolic Acidemia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition.[medigest.uk]

Prognosis

  • Prognosis - Refsum disease with increased pipecolic acidemia Not supplied.[checkorphan.org]
  • This variant has a better prognosis than that of other forms. AMN-cerebral is used to describe increased impairment of neuropsychological function. Patients have various degrees of brain MRI abnormalities.[emedicine.medscape.com]
  • Clinical course Prognosis in the late-onset form is much better.[mrineonatalbrain.com]

Epidemiology

  • You are ( * ) If you have selected the “Other” category, please specify which type of user you are: * Email address: * Topic of your comment * Epidemiology data Summary and related texts Related genes Clinical signs Nomenclature and/or coding Your message[orpha.net]
  • Shoukri, Department of Biostatistics, Epidemiology, and Scientific Computing, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh for assistance with the statistical analysis.[clinchem.aaccjnls.org]
Sex distribution
Age distribution

Pathophysiology

  • For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al. (McGraw-Hill, 1995).[books.google.ro]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Pipecolic acid (PA) is an intermediate of lysine metabolism and is oxidized in the peroxisomes by the enzyme L-pipecolate oxidase[mayomedicallaboratories.com]
  • The underlying pathophysiological mechanism in urea cycle defects (vasogenic edema) is different from that in MSUD (vacuolating myelinopathy), as demonstrated by the distinctly different presentations on diffusion-weighted images.[mrineonatalbrain.com]

Prevention

  • Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders.[books.google.ro]
  • Prevention - Refsum disease with increased pipecolic acidemia Not supplied. Diagnosis - Refsum disease with increased pipecolic acidemia Not supplied. Prognosis - Refsum disease with increased pipecolic acidemia Not supplied.[checkorphan.org]
  • . • To prevent spams, you must not use the words "http" ".com" or "/"(slashes) in this forum. Don't forget to check out our other forums here. Alert! Please do not buy anything or pay anyone on this forum. Scammers have been reported on our forum.[nicehub.com]
  • Isovaleric acidemia Isovaleric acidemia, also called isovaleric aciduria or isovaleric acid CoA dehydrogenase deficiency, is a rare autosomal recessive metabolic disorder which disrupts or prevents normal metabolism of the branched-chain amino acid leucine[wordnetonline.com]

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