About: Carnitine palmitoyltransferase I deficiency

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Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. It is caused by a mutation in CPT1A on chromosome 11. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme, carnitine palmitoyltransferase I, that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalRecessiveDisorders yago:Abstraction100002137 yago:Act100030358 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:Event100029378 yago:IllHealth114052046 yago:Illness114061805 yago:Mistake100070965 yago:Nonaccomplishment100066216 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatInbornErrorsOfMetabolism yago:YagoPermanentlyLocatedEntity disease yago:State100024720 yago:WikicatFatty-acidMetabolismDisorders umbel-rc:AilmentCondition
rdfs:label	Carnitine palmitoyltransferase I deficiency (en) Déficit en carnitine palmitoyltransférase I (fr)
rdfs:comment	Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. It is caused by a mutation in CPT1A on chromosome 11. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme, carnitine palmitoyltransferase I, that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down. (en) Le déficit en carnitine palmitoyltransférase I est une maladie métabolique congénitale par trouble de l’oxydation mitochondriale des . L’oxydation hépatique des acides gras fournit de l’énergie en cas d’épuisement des réserves en glycogène donc en cas de jeune prolongé. Les manifestations de ce déficit se voient surtout en cas d’augmentation de la demande énergétique : * Dans l’enfance :encéphalopathie hépatique avec hypoglycémie hypocétonémique * Myopathie à l’age adulte * lorsque le fœtus est homozygote pour la mutation. (fr)
foaf:name	Carnitine palmitoyltransferase I deficiency (en)
name	Carnitine palmitoyltransferase I deficiency (en)
foaf:depiction
dcterms:subject	Autosomal recessive disorders Hepatology Fatty-acid metabolism disorders Rare diseases
Wikipage page ID	2525600 (xsd:integer)
Wikipage revision ID	1075758508 (xsd:integer)
Link from a Wikipage to another Wikipage	Carnitine Carnitine palmitoyltransferase II deficiency Metabolic disorder Hypoglycemia Reye syndrome Genetic carrier Mitochondria Autosomal recessive disorders Liver Fatty acid Ketone Autosomal recessive Hepatology Chromosome 11 Carnitine palmitoyltransferase I Fatty-acid metabolism disorders Rare diseases Hepatomegaly Medium-chain acyl-coenzyme A dehydrogenase deficiency CPT1A Primary carnitine deficiency
Link from a Wikipage to an external page	http://ghr.nlm.nih.gov
sameAs	Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase I deficiency Carnitine palmitoyltransferase I deficiency
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:Medicine dbt:Fatty-acid_metabolism_disorders
thumbnail	wiki-commons:Special:FilePath/Carnitine_structure.png?width=300
DiseasesDB	32535 (xsd:integer)
ICD	277.850000 (xsd:double) (en)
OMIM	255120 (xsd:integer)
caption	Carnitine
synonyms	CPT-I, CPT1 (en)
has abstract	Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food. It is caused by a mutation in CPT1A on chromosome 11. Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty enzyme, carnitine palmitoyltransferase I, that prevents these long-chain fatty acids from being transported into the mitochondria to be broken down. (en) Le déficit en carnitine palmitoyltransférase I est une maladie métabolique congénitale par trouble de l’oxydation mitochondriale des . L’oxydation hépatique des acides gras fournit de l’énergie en cas d’épuisement des réserves en glycogène donc en cas de jeune prolongé. Les manifestations de ce déficit se voient surtout en cas d’augmentation de la demande énergétique : * Dans l’enfance :encéphalopathie hépatique avec hypoglycémie hypocétonémique * Myopathie à l’age adulte * lorsque le fœtus est homozygote pour la mutation. Entre les crises de décompensation, l’individu malade a un développement normal sauf en cas de séquelle neurologique des décompensations. (fr)
eMedicineSubj	ped (en)
eMedicineTopic	321 (xsd:integer)
gold:hypernym	Disorder
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
ICD9	277.85
eMedicine subject	ped (en)
eMedicine topic	321 (en)
prov:wasDerivedFrom	wikipedia-en:Carnitine_palmitoyltransferase_I_deficiency?oldid=1075758508&ns=0
page length (characters) of wiki page	6562 (xsd:nonNegativeInteger)
DiseasesDB	32535
OMIM id	255120 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:Carnitine_palmitoyltransferase_I_deficiency
is Link from a Wikipage to another Wikipage of	Carnitine palmitoyltransferase II deficiency List of causes of hypoglycemia List of diseases (C) Rhabdomyolysis Inborn error of lipid metabolism List of neuromuscular disorders

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