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- Systemic_primary_carnitine_deficiency abstract "Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine transporter deficiency 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 rigouously maintained for life.".
- Systemic_primary_carnitine_deficiency diseasesdb "31103".
- Systemic_primary_carnitine_deficiency emedicineSubject "ped".
- Systemic_primary_carnitine_deficiency emedicineTopic "321".
- 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 wikiPageRevisionID "591617119".
- 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 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 type Abstraction100002137.
- Systemic_primary_carnitine_deficiency type Attribute100024264.
- Systemic_primary_carnitine_deficiency type AutosomalRecessiveDisorders.
- Systemic_primary_carnitine_deficiency type Condition113920835.
- Systemic_primary_carnitine_deficiency type Disorder114052403.
- Systemic_primary_carnitine_deficiency type Fatty-acidMetabolismDisorders.
- Systemic_primary_carnitine_deficiency type PhysicalCondition114034177.
- Systemic_primary_carnitine_deficiency type State100024720.
- Systemic_primary_carnitine_deficiency type Disease.
- Systemic_primary_carnitine_deficiency type Situation.
- Systemic_primary_carnitine_deficiency comment "Systemic primary carnitine deficiency, (SPCD) also known as carnitine uptake defect, carnitine transporter deficiency 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 label "卡尼丁缺乏症".
- Systemic_primary_carnitine_deficiency sameAs m.06lyh_.
- Systemic_primary_carnitine_deficiency sameAs Q3358135.
- Systemic_primary_carnitine_deficiency sameAs Q3358135.
- Systemic_primary_carnitine_deficiency sameAs 199.
- Systemic_primary_carnitine_deficiency sameAs Systemic_primary_carnitine_deficiency.
- Systemic_primary_carnitine_deficiency wasDerivedFrom Systemic_primary_carnitine_deficiency?oldid=591617119.
- 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".