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- Systemic_primary_carnitine_deficiency abstract "Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine transporter deficiency (CTD) or systemic carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane. Carnitine is an important amino acid for fatty acid metabolism. When carnitine cannot be transported into tissues, fatty acid oxidation is impaired, leading to a variety of symptoms such as chronic muscle weakness, cardiomyopathy, hypoglycemia and liver dysfunction. The specific transporter involved with SPCD is OCTN2, coded for by the SLC22A5 gene located on chromosome 5. SPCD is inherited in an autosomal recessive manner, with mutated alleles coming from both parents.Acute episodes due to SPCD are often preceded by metabolic stress such as extended fasting, infections or vomiting. Cardiomyopathy can develop in the absence of an acute episode, and can result in death. SPCD leads to increased carnitine excretion in the urine and low levels in plasma. In most locations with expanded newborn screening, SPCD can be identified and treated shortly after birth. Treatment with high doses of carnitine supplementation is effective, but needs to be rigorously maintained for life. SPCD is more common in the Faroe Islands than in other countries, at least one out of every 1000 inhabitants of the Faroes has the illness, while the numbers for other countries are one in every 100,000. Around 100 persons in the islands have been diagnosed, around one third of the whole population of 48,000 people have been screened for SPCD. Several young Faroese people and children have died a sudden death with cardiac arrest because of SPCD. Scientists believe that around 10% of the Faroese polutation are carriers of the gene for SPCD. These people are not ill, but may have a lower amount of carnitine in their blood than non-carriers.".
- Systemic_primary_carnitine_deficiency icd10 "E71.3".
- Systemic_primary_carnitine_deficiency icd9 "277.81".
- Systemic_primary_carnitine_deficiency omim "212140".
- Systemic_primary_carnitine_deficiency thumbnail Carnitine_structure.png?width=300.
- Systemic_primary_carnitine_deficiency wikiPageExternalLink OCTN2_welcome.php.
- Systemic_primary_carnitine_deficiency wikiPageExternalLink NBK84551.
- Systemic_primary_carnitine_deficiency wikiPageID "2097334".
- Systemic_primary_carnitine_deficiency wikiPageLength "11943".
- Systemic_primary_carnitine_deficiency wikiPageOutDegree "37".
- Systemic_primary_carnitine_deficiency wikiPageRevisionID "678363996".
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Allele.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Autosomal_recessive.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Benign.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Benignity.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Beta_oxidation.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Blood_plasma.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Cardiomyopathy.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Carnitine.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Category:Autosomal_recessive_disorders.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Category:Fatty-acid_metabolism_disorders.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Category:Hepatology.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Cell_membrane.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Chromosome_5_(human).
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Dominance_(genetics).
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Faroe_Islands.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Fatty_acid_oxidation.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Fibroblast.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Fibroblasts.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Heterozygote.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Hypoglycemia.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Japan.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Ketone_bodies.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Mitochondria.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Mitochondrion.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Newborn_screening.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Peroxisome_proliferator-activated_receptor_alpha.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Plasma_membrane.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink SLC22A5.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Taiwan.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Tandem_mass_spectrometry.
- Systemic_primary_carnitine_deficiency wikiPageWikiLink Zygosity.
- Systemic_primary_carnitine_deficiency wikiPageWikiLinkText "Carnitine palmitoyl transferase deficiency".
- Systemic_primary_carnitine_deficiency wikiPageWikiLinkText "Systemic primary carnitine deficiency".
- Systemic_primary_carnitine_deficiency wikiPageWikiLinkText "systemic primary carnitine deficiency".
- Systemic_primary_carnitine_deficiency caption Carnitine.
- Systemic_primary_carnitine_deficiency diseasesdb "31103".
- Systemic_primary_carnitine_deficiency emedicinesubj "ped".
- Systemic_primary_carnitine_deficiency emedicinetopic "321".
- Systemic_primary_carnitine_deficiency hasPhotoCollection Systemic_primary_carnitine_deficiency.
- Systemic_primary_carnitine_deficiency icd "277.81".
- Systemic_primary_carnitine_deficiency icd "E71.3".
- Systemic_primary_carnitine_deficiency name "Systemic primary carnitine deficiency".
- Systemic_primary_carnitine_deficiency omim "212140".
- Systemic_primary_carnitine_deficiency wikiPageUsesTemplate Template:Fatty-acid_metabolism_disorders.
- Systemic_primary_carnitine_deficiency wikiPageUsesTemplate Template:Infobox_disease.
- Systemic_primary_carnitine_deficiency wikiPageUsesTemplate Template:Reflist.
- Systemic_primary_carnitine_deficiency subject Category:Autosomal_recessive_disorders.
- Systemic_primary_carnitine_deficiency subject Category:Fatty-acid_metabolism_disorders.
- Systemic_primary_carnitine_deficiency subject Category:Hepatology.
- Systemic_primary_carnitine_deficiency hypernym Error.
- Systemic_primary_carnitine_deficiency type Article.
- Systemic_primary_carnitine_deficiency type Disease.
- Systemic_primary_carnitine_deficiency type Article.
- Systemic_primary_carnitine_deficiency type Disorder.
- Systemic_primary_carnitine_deficiency type Error.
- Systemic_primary_carnitine_deficiency type Specialty.
- Systemic_primary_carnitine_deficiency type Thing.
- Systemic_primary_carnitine_deficiency type Q12136.
- Systemic_primary_carnitine_deficiency comment "Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine transporter deficiency (CTD) or systemic carnitine deficiency is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine across the plasma membrane. Carnitine is an important amino acid for fatty acid metabolism.".
- Systemic_primary_carnitine_deficiency label "Systemic primary carnitine deficiency".
- Systemic_primary_carnitine_deficiency sameAs Karnitintransportørdefekt.
- Systemic_primary_carnitine_deficiency sameAs CTD.
- Systemic_primary_carnitine_deficiency sameAs Karnitintransportørdefekt.
- Systemic_primary_carnitine_deficiency sameAs m.06lyh_.
- Systemic_primary_carnitine_deficiency sameAs Q3358135.
- Systemic_primary_carnitine_deficiency sameAs Q3358135.
- Systemic_primary_carnitine_deficiency sameAs 卡尼丁缺乏症.
- Systemic_primary_carnitine_deficiency wasDerivedFrom Systemic_primary_carnitine_deficiency?oldid=678363996.
- Systemic_primary_carnitine_deficiency depiction Carnitine_structure.png.
- Systemic_primary_carnitine_deficiency isPrimaryTopicOf Systemic_primary_carnitine_deficiency.
- Systemic_primary_carnitine_deficiency name "Systemic primary carnitine deficiency".