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systemic primary carnitine deficiency disease (DOID:14365)
Annotations: Rat: (13) Mouse: (13) Human: (14) Chinchilla: (11) Bonobo: (13) Dog: (13) Squirrel: (13) Pig: (12)
Parent Terms Term With Siblings Child Terms
cardiomyopathy +     
Hyperammonemia +     
muscular disease +     
2-aminoadipic 2-oxoadipic aciduria  
2-hydroxyglutaric aciduria +   
2-Methylacetoacetyl CoA Thiolase Deficiency 
2-Methylbutyryl-CoA Dehydrogenase Deficiency  
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency  
3-Hydroxyisobutyric Aciduria 
5-Oxoprolinase Deficiency  
Adams Nance Syndrome 
adenine phosphoribosyltransferase deficiency  
adenylosuccinase lyase deficiency  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism +   
alcoholic cardiomyopathy  
alkaptonuria +   
Alpha-Ketoglutarate Dehydrogenase Deficiency  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Aminoacylase 1 Deficiency  
Arakawa Syndrome 2 
argininosuccinic aciduria  
aromatic L-amino acid decarboxylase deficiency  
Arthrogryposis +   
Asparagine Synthetase Deficiency  
Ataxia, Deafness, and Cardiomyopathy 
Atrial Dilation and Standstill +   
atrophic muscular disease +   
autosomal recessive limb-girdle muscular dystrophy type 2D  
Axial Myopathy, Late-Onset +   
Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts 
Beta-Aminoisobutyric Acid, Urinary Excretion of  
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
beta-ketothiolase deficiency  
BH4-deficient hyperphenylalaninemia A  
Blue Diaper Syndrome 
branched-chain keto acid dehydrogenase kinase deficiency  
Brunner syndrome  
Camptodactyly Taurinuria 
Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia 
carboxypeptidase N deficiency  
Cardiomyopathy Associated with Myopathy and Sudden Death 
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Carey-Fineman-Ziter syndrome  
cerebral creatine deficiency syndrome +   
Chagas Cardiomyopathy  
chronic fatigue syndrome  
compartment syndrome +   
Congenital Myopathy with Neuropathy and Deafness  
Contracture +   
Craniomandibular Disorders +   
Cysteine Peptiduria 
cystinuria +   
Danon disease  
Diabetic Cardiomyopathies  
diaphragm disease +   
Dibasic Amino Aciduria I 
dicarboxylic aminoaciduria  
Dimauro Disease  
Dimethylglycine Dehydrogenase Deficiency  
Early-Onset Myopathy with Fatal Cardiomyopathy  
Ehlers-Danlos syndrome kyphoscoliotic type 2  
endocardial fibroelastosis +   
endomyocardial fibrosis  
eosinophilia-myalgia syndrome  
Erythrocyte Amp Deaminase Deficiency  
Erythrocyte Lactate Transporter Defect  
extrinsic cardiomyopathy +   
Familial Cardiac Lipidosis 
familial periodic paralysis +   
Fatal Fetal Cardiomyopathy due to Myocardial Calcification 
fibromyalgia +   
Fingerprint Body Myopathy 
fumarase deficiency  
GABA aminotransferase deficiency  
gamma-amino butyric acid metabolism disorder +   
gamma-glutamyl transpeptidase deficiency  
Gamstorp-Wohlfart syndrome  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Glutamate Monosodium Sensitivity 
glutamate-cysteine ligase deficiency  
Glutamine Deficiency, Congenital  
Glutaric Aciduria +   
glutathione synthetase deficiency  
glycine encephalopathy +   
Glycinuria with or without Oxalate Urolithiasis  
Hartnup disease  
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis  
histidine metabolism disease +   
homocystinuria +   
hyperhomocysteinemia +   
hyperlysinemia +   
hypermethioninemia +   
hyperprolinemia +   
Hypertaurinuric Cardiomyopathy 
Hypertrophia Musculorum Vera 
Hypertryptophanemia +   
Ichthyosis, Split Hairs, and Amino Aciduria 
Indolylacroyl Glycinuria with Mental Retardation 
Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development  
Internal Anal Sphincter Myopathy 
intrinsic cardiomyopathy +   
Isobutyryl-CoA Dehydrogenase Deficiency  
isolated sulfite oxidase deficiency  
isovaleric acidemia  
Kearns-Sayre syndrome  
Keshan disease  
Kocher-Debre-Semelaigne Syndrome 
Late-Onset Carnitine Palmitoyltransferase II Deficiency  
linear skin defects with multiple congenital anomalies 3  
Lysine Malabsorption Syndrome 
lysinuric protein intolerance  
Maleylacetoacetate Isomerase Deficiency  
maple syrup urine disease +   
Marinesco-Sjogren syndrome  
Medial Tibial Stress Syndrome 
Mercaptolactate-Cysteine Disulfiduria 
Methionine Malabsorption Syndrome 
Methylmalonate Semialdehyde Dehydrogenase Deficiency  
methylmalonic acidemia +   
Methylmalonyl-CoA Epimerase Deficiency +   
Mitochondrial Cardiomyopathy  
mitochondrial DNA depletion syndrome 12a  
mitochondrial DNA depletion syndrome 12b  
mitochondrial DNA depletion syndrome 5  
Mitochondrial DNA Depletion Syndrome, Myopathic Form +   
multiple acyl-CoA dehydrogenase deficiency +   
multiple carboxylase deficiency +   
Muscle Cramp +   
Muscle Rigidity +   
Muscle Spasticity +   
muscle tissue disease +   
Muscle Weakness +   
Muscular Dystrophy, Cardiac Type 
Muscular Hypoplasia, Congenital Universal, of Krabbe 
Musculoskeletal Pain +   
Myalgia +   
Myocardial Reperfusion Injury  
myocarditis +   
myofascial pain syndrome +   
myofibrillar myopathy 2  
Myopathic Carnitine Deficiency 
Myopathy due to Malate-Aspartate Shuttle Defect 
Myopathy with Lactic Acidosis, Hereditary  
Myopathy, Granulovacuolar Lobular, with Electrical Myotonia 
myositis +   
myostatin-related muscle hypertrophy  
myotonic disease +   
N-Acetylaspartate Deficiency  
neutral lipid storage disease +   
nuclear type mitochondrial complex I deficiency 20  
Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria 
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
organic acidemia +   
ornithine carbamoyltransferase deficiency  
ornithine translocase deficiency  
Pectoralis Muscle, Absence of 
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
phenylketonuria +   
prolidase deficiency  
propionic acidemia +   
Proximal Myopathy with Focal Depletion of Mitochondria 
Rhabdomyolysis +   
Richards-Rundle Syndrome 
Roifman Syndrome  
Sengers syndrome  
serine deficiency +   
Singleton Merten Syndrome +   
Skeletal Muscle Injuries  
Skeletal Muscle Reperfusion Injury  
succinic semialdehyde dehydrogenase deficiency  
systemic primary carnitine deficiency disease  
An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. (DO)
Tel Hashomer Camptodactyly Syndrome 
tendinitis +   
Tiglic Acidemia 
Treft Sanborn Carey Syndrome 
Tryptophanuria with Dwarfism 
tyrosinemia +   
Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy 
urea cycle disorder +   
Urocanase Deficiency  
Uruguay faciocardiomusculoskeletal syndrome  
Vacuolar Myopathy  
Valinemia +   
Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2  
very long chain acyl-CoA dehydrogenase deficiency  

Exact Synonyms: CDSP ;   CUD ;   Carnitine Uptake Deficiency ;   Carnitine uptake defect ;   SCD ;   carnitine transporter deficiency ;   carnitine transporter, plasma-membrane, deficiency of ;   primary carnitine deficiency ;   renal carnitine transport defect ;   systemic carnitine deficiency ;   systemic carnitine deficiency due to defect in renal reabsorption of carnitine ;   systemic primary carnitine deficiency
Primary IDs: MESH:C536778
Alternate IDs: OMIM:212140
Xrefs: ICD10CM:E71.41 ;   ICD9CM:277.81 ;   NCI:C98864
Definition Sources: "DO"

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