関: multiple peroxisomal dysfunction、neonatal adrenoleukodystrophy、peroxisomal disorder

WordNet

a blood disorder characterized by an increased concentration of hydrogen ions in the blood (which falls below 7 on the pH scale)

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/08/05 20:50:25」(JST)

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Pipecolic acidemia, also called hyperpipecolic acidemia or hyperpipecolatemia,^[1] is a very rare autosomal recessive metabolic disorder that is caused by a peroxisomal defect.

Pipecolic acidemia can also be an associated component of Refsum disease with increased pipecolic acidemia (RDPA),^[2] as well as other peroxisomal disorders, including both infantile and adult Refsum disease,^[3]^[4]^[5] and Zellweger syndrome.^[6]

Characteristics

The disorder is characterized by an increase in pipecolic acid levels in the blood, leading to neuropathy and hepatomegaly.

References

^ Online 'Mendelian Inheritance in Man' (OMIM) 239400
^ Online 'Mendelian Inheritance in Man' (OMIM) 600964
^ Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM (Oct 1993). "A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation". Neurology 43 (10): 2044–2048. doi:10.1212/wnl.43.10.2044. PMID 8413964.
^ Online 'Mendelian Inheritance in Man' (OMIM) 266510
^ Online 'Mendelian Inheritance in Man' (OMIM) 266500
^ Brul, S.; Westerveld, A.; Strijland, A.; Wanders, R.; Schram, A.; Heymans, H.; Schutgens, R.; Van Den Bosch, H.; Tager, J. (June 1988). "Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis". Journal of Clinical Investigation (Free full text) 81 (6): 1710–1715. doi:10.1172/JCI113510. PMC 442615. PMID 2454948. edit

External links

Definition in biology-online.org

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1. ペルオキシソーム病 peroxisomal disorders

English Journal

Experimental evidence that pristanic acid disrupts mitochondrial homeostasis in brain of young rats.

Busanello EN, Amaral AU, Tonin AM, Grings M, Moura AP, Eichler P, Vargas CR, Wajner M.SourceDepartamento de Bioquímica, Instituto de Ciências Básicas da Saúde, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
Journal of neuroscience research.J Neurosci Res.2011 Dec 20. doi: 10.1002/jnr.22802. [Epub ahead of print]
Patients affected by peroxisomal disorders commonly present neurologic dysfunction and brain abnormalities, whose neuropathology is poorly understood. Given that high sustained concentrations of pristanic acid (Prist) are found in the brain of these patients, it is conceivable that this complex bran
PMID 22183871

Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: Prospective newborn screening for X-linked adrenoleukodystrophy.

Sandlers Y, Moser AB, Hubbard WC, Kratz LE, Jones RO, Raymond GV.SourceDepartment of Pediatrics at Johns Hopkins University, 707 N. Broadway, Baltimore, MD 21205, USA; Kennedy Krieger Institute, 707 N. Broadway, Baltimore, MD 21205, USA.
Molecular genetics and metabolism.Mol Genet Metab.2011 Dec 2. [Epub ahead of print]
X-linked adrenoleukodystrophy (X-ALD) is a severe genetic disorder that affects the nervous system, and the adrenal cortex. Newborn screening for X-ALD has been proposed to allow improved diagnosis along with prospective monitoring and treatment for this severe disorder. Newborn dried whole blood sp
PMID 22197596