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Carnitine Deficiency
Carnitine deficiency
Overview
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Hepatology
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase deficiency
Cholesteryl ester storage disease
Hepatomegaly
Glycogen storage disease
Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine acylcarnitine translocase deficiency
Citrullinemia
Galactosemia
Glutaric acidemia type I
Glutaric acidemia type II
Holocarboxylase synthetase deficiency
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
LCHAD
MCADH deficiency
Malonic aciduria
Metabolic diseases
Methylmalonic acidemia
Myoadenylate deaminase deficiency
Newborn screening
Phenylketonuria
Propionic acidemia
Pyruvate carboxylase deficiency
Short-chain acyl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Tyrosinemia type II
VLCAD
2,4 Dienoyl-CoA reductase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase deficiency
Cholesteryl ester storage disease
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Glucose-galactose malabsorption
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type V
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Maple syrup urine disease
Menkes disease
Metab-L
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
N-Acetylglutamate synthase deficiency
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Prolidase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Urea cycle disorder
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
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Autosomal recessive disorders
(250)
Biotinidase deficiency
Homocystinuria
Phosphofructokinase deficiency
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
2-Hydroxyglutaric aciduria
3 methylcrotonyl-coa carboxylase deficiency
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
Ablepharon macrostomia syndrome
Acatalasia
Aceruloplasminemia
Acheiropodia
Acrocallosal syndrome
Acrodermatitis enteropathica
Acute fatty liver of pregnancy
Adducted thumb syndrome
Adenine phosphorib- osyltransferase deficiency
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aicardi-Goutieres syndrome
Aldolase A deficiency
Alkaptonuria
Alpha-mannosidosis
Antley-Bixler syndrome
Argininemia
Argininosuccinic aciduria
Arterial tortuosity syndrome
Aspartylgl- ucosaminuria
Atelosteogenesis, type II
Atransferrinemia
Bare lymphocyte syndrome
Batten disease
Behr's syndrome
Bernard-Soulier syndrome
Beta-ketothiolase deficiency
Beta-mannosidosis
Bietti's crystalline dystrophy
Bloom syndrome
Blue diaper syndrome
CAMFAK syndrome
Canavan disease
Carbamoyl phosphate synthetase I deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
Cerebrotendineous xanthomatosis
Chediak–Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Citrullinemia
Cockayne syndrome
Compound heterozygosity
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystathioninuria
Cystic fibrosis
Cystinosis
Cystinuria
D-Glyceric acidemia
DOOR syndrome
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Donohue syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
EAST syndrome
EEM syndrome
Ellis-van Creveld syndrome
Essential fructosuria
Ethylmalonic encephalopathy
Familial Mediterranean fever
Familial dysautonomia
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Fraser syndrome
Friedreich's ataxia
Fucosidosis
Fumarase deficiency
GM2-gangliosidosis, AB variant
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidosis
Gastroschisis
Gaucher's disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutaric acidemia type I
Glutaric acidemia type II
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type V
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Harlequin type ichthyosis
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Hurler syndrome
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile free sialic acid storage disease
Infantile neuroaxonal dystrophy
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Jervell and Lange-Nielsen syndrome
Johanson-Blizzard syndrome
Juvenile Primary Lateral Sclerosis
Kaufman oculocerebrofacial syndrome
Keutel syndrome
Kindler syndrome
Krabbe disease
LCHAD
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipid storage disorder
Lipoid congenital adrenal hyperplasia
Lucey-Driscoll syndrome
Lysinuric protein intolerance
MCADH deficiency
Malonic aciduria
Maple syrup urine disease
Meckel syndrome
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Methylmalonic acidemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
N-Acetylglutamate synthase deficiency
Nemaline myopathy
Nephronophthisis
Netherton syndrome
Neuronal ceroid lipofuscinosis
Nezelof syndrome
Niemann-Pick disease, type C
Niemann–Pick disease
Ochronosis
Oculodentodigital syndrome
Oguchi disease
Omenn syndrome
Ornithine translocase deficiency
Orotic aciduria
Otospondyl- omegaepiphyseal dysplasia
Papillon–Lefèvre syndrome
Pendred syndrome
Persistent Mullerian duct syndrome
Phenylketonuria
Primary ciliary dyskinesia
Progressive external ophthalmoplegia
Prolidase deficiency
Propionic acidemia
Pseudodominance
Pseudoxanthoma elasticum
Purine nucleoside phosphorylase deficiency
Pycnodysostosis
Pyruvate carboxylase deficiency
Rabson-Mendenhall syndrome
Raine syndrome
Rapadilino syndrome
Recessive multiple epiphyseal dysplasia
Renal dysplasia-limb defects syndrome
Renal-hepa- tic-pancreatic dysplasia
Reproductive compensation
Restrictive dermopathy
Richner Hanhart syndrome
Rothmund–Thomson syndrome
Rotor syndrome
Sabinas brittle hair syndrome
Saccharopinuria
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sarcosinemia
Short-chain acyl-CoA dehydrogenase deficiency
Shwachman-Diamond syndrome
Sickle cell trait
Sickle-cell disease
Situs inversus
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Sugarman syndrome
Survival motor neuron spinal muscular atrophy
Tangier disease
Tay-Sachs disease
Tetrahydrobiopterin deficiency
Thalassemia
Trifunctional protein deficiency
Trimethylaminuria
Triosephosphate isomerase deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urbach–Wiethe disease
Urocanic aciduria
Usher syndrome
VLCAD
Vaso-occlusive crisis
Vici syndrome
Weissenbac- her-Zweymüller syndrome
Werner syndrome
Wilson's disease
Wolcott-Rallison syndrome
Wolman disease
Woodhouse-Sakati syndrome
Xeroderma pigmentosum
Yunis-Varon syndrome
ZAP70 deficiency
Zazam Sheriff Phillips syndrome
Zunich–Kaye syndrome
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Genetic disorders
(36)
Mitochondrial disease
Charcot-Marie Tooth Disease
Beta thalassemia
Cerebral cavernous malformation
Adrenoleuk- odystrophy
Adrenoleuk- odystrophy
Paramyotonia congenita
Carnitine palmitoylt- ransferase II deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase deficiency
VLCAD
Propionic acidemia
Trifunctional protein deficiency
LCHAD
Isobutyryl-CoA dehydrogenase deficiency
Glutaric acidemia type I
MCADH deficiency
Homocystinuria
Beta-ketothiolase deficiency
Short-chain acyl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
Galactosemia
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Isovaleric acidemia
Malonic aciduria
Glutaric acidemia type II
Pyruvate carboxylase deficiency
Tyrosinemia type II
Citrullinemia
Cholesteryl ester storage disease
Carbamoyl phosphate synthetase I deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Methylmalonic acidemia
Holocarboxylase synthetase deficiency
Phenylketonuria
Biotinidase deficiency
Phosphofructokinase deficiency
more...
Diseases and disorders
(46)
Carnitine palmitoyl transferase deficiency
Lipid storage myopathy
Metabolic disorders
Fatty acid oxidation disorders
Long-chain acyl-coa dehydrogenase deficiency
Long-chain acyl-coa dehydrogenase deficiency
Myopathy
Lactate dehydrogenase deficiency
Phosphoglycerate kinase deficiency
Iodine deficiency
Congenital hypothyroidism
Epilepsia
Cardiomyopathy
Treatment of chronic fatigue syndrome
Dilated cardiomyopathy
Intermittent claudication
Hyperammonemia
Chronic kidney disease
Asthenospermia
Myoglobinuria
Magnesium deficiency
Mitochondrial myopathy
Vitamin a deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine acylcarnitine translocase deficiency
Trifunctional protein deficiency
Homocystinuria
Beta-ketothiolase deficiency
Myoadenylate deaminase deficiency
Galactosemia
Charcot-Marie Tooth Disease
Metabolic diseases
Malonic aciduria
Pyruvate carboxylase deficiency
Tyrosinemia type II
Citrullinemia
Cholesteryl ester storage disease
Carbamoyl phosphate synthetase I deficiency
Beta thalassemia
Methylmalonic acidemia
Cerebral cavernous malformation
Holocarboxylase synthetase deficiency
Phenylketonuria
Glycogen storage disease
Biotinidase deficiency
Phosphofructokinase deficiency
Paramyotonia congenita
more...
Rare diseases
(9)
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase deficiency
Propionic acidemia
Newborn screening
Beta-ketothiolase deficiency
Beta-ketothiolase deficiency
Isovaleric acidemia
Malonic aciduria
Cholesteryl ester storage disease
Methylmalonic acidemia
more...
Integral membrane proteins
Carnitine palmitoylt- ransferase
Solute carrier family
Cytochrome-c oxidase deficiency
Respiratory chain
Dietary supplement
Carnitine
Acetyl-l-carnitine
Lysine
Crataegus
Methionine
Enzyme
CPT1A
L-3-hydroxyacyl CoA dehydrogenase
2,4 Dienoyl CoA reductase
Myophosphorylase
Carnitine palmitoylt- ransferase
See also
(20)
Fatty acids
Long-chain fatty acids
Drugs
Carnitine-- acylcarnitine translocase
Carnitine palmitoylt- ransferase II
Carnitine palmitoylt- ransferase II
SLC22A5
Carnitor
Acyl CoA dehydrogenase
Renal reabsorption
Anticonvulsants
Valproic acid
Acyl CoA
Mitochondria
Chemical substances
King Saud University
Chemopreventive
Energy metabolism
Xerosis
Beta oxidation
Skeletal muscles
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