Carnitine palmitoyltransferase II deficiency
Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and myopathic.
CPT II deficiencyCarnitine Palmityl Transferase DeficiencyCarnitine palmitoyl transferase 2 deficiencyCarnitine palmitoyltransferase deficiency type IICarnitine palmitoyltransferase ii deficiencyCarnitine palmityl transferaseCarnitine palmityl transferase deficiency type 2Hereditary carnitine deficiency myopathyMuscle form of carnitine palmitoyltransferase deficiency
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CPT2CPT II deficiencyCarnitine-acylcarnitine translocase deficiencyCarnitine O-palmitoyltransferaseCarnitine Palmityl Transferase DeficiencyCarnitine palmitoyl transferase 2 deficiencyCarnitine palmitoyltransferase IICarnitine palmitoyltransferase I deficiencyCarnitine palmitoyltransferase deficiency type IICarnitine palmitoyltransferase ii deficiencyCarnitine palmityl transferaseCarnitine palmityl transferase deficiency type 2Chromosome 1Diagnosis (American TV series)FasciculationFatty-acid metabolism disorderGlycogen storage disease type VHardgainerHereditary carnitine deficiency myopathyHyperammonemiaInborn error of lipid metabolismList of ICD-9 codes 240–279: endocrine, nutritional and metabolic diseases, and immunity disordersList of diseases (C)List of diseases (H)List of disorders included in newborn screening programsMuscle form of carnitine palmitoyltransferase deficiencyMuscular Dystrophy AssociationMyalgiaMyoglobinuriaMyokymiaRhabdomyolysisTransferaseTriheptanoin
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Carnitine palmitoyltransferase II deficiency
Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and myopathic.
has abstract
Carnitine palmitoyltransferase ...... e of hereditary myoglobinuria.
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La deficiencia de la enzima ca ...... : la infantil y la del adulto.
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Le déficit en carnitine palmit ...... ement une mutation spécifique.
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عوز إنزيم كارنيتين بالميتويل ت ...... ًا لبيلة الميوغلوبين الوراثية.
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ped
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eMedicine topic
321
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993,564,725
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DiseasesDB
eMedicineSubj
ped
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eMedicineTopic
ICD
name
Carnitine palmitoyltransferase II deficiency
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OMIM
synonyms
CPT-II, CPT2
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Carnitine palmitoyltransferase ...... ocardiomuscular and myopathic.
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La deficiencia de la enzima ca ...... : la infantil y la del adulto.
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Le déficit en carnitine palmit ...... yoglobinurie lors des efforts.
@fr
عوز إنزيم كارنيتين بالميتويل ت ...... الاعتلال العضلي عند البالغين.
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label
CPT II-brist
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Carnitine palmitoyltransferase II deficiency
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Deficiencia de carnitina palmitoiltransferasa tipo II
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Déficit en carnitine palmitoyltransférase II
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عوز إنزيم كارنيتين بالميتويل ترانسفيراز 2
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Carnitine palmitoyltransferase II deficiency
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