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Mitochondrial Trifunctional Protein Deficiency
Mitochondrial trifunctional protein deficiency
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Inborn errors of metabolism
(106)
LCHAD deficiency
Lecithin cholesterol acyltransferase deficiency
Lipid storage disorders
Malonic aciduria
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes syndrome
Newborn screening
Primary carnitine deficiency
Short chain acyl coenzyme A dehydrogenase deficiency
Tangier disease
VLCAD deficiency
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-Methylcr- otonyl-CoA carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase 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
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Citrullinemia
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
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
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
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lesch–Nyhan syndrome
Lipid storage disorder
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Maple syrup urine disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(10)
Lipoid proteinosis
Abetalipop- roteinemia
Malonic aciduria
Lecithin cholesterol acyltransferase deficiency
LCHAD deficiency
LCHAD deficiency
VLCAD deficiency
Short chain acyl coenzyme A dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Primary carnitine deficiency
Tangier disease
more...
Genetic disorder
Hypoalphal- ipoproteinemia
Malonic aciduria
Short chain acyl coenzyme A dehydrogenase deficiency
Genetic disorders
(13)
Barraquer-Simons Syndrome
Adrenoleuk- odystrophy
Mitochondrial disorders
Malonic aciduria
Lecithin cholesterol acyltransferase deficiency
Lecithin cholesterol acyltransferase deficiency
LCHAD deficiency
VLCAD deficiency
Short chain acyl coenzyme A dehydrogenase deficiency
Abetalipop- roteinemia
Hypoalphal- ipoproteinemia
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Primary carnitine deficiency
Tangier disease
more...
Medical condition
(12)
Adiposis dolorosa
Fatty acid oxidation disorders
Hypolipoproteinemia
Fatty acid oxidation disorder
Xanthoma
Xanthoma
Reye syndrome
Hypoglycemia
Malonic aciduria
Abetalipop- roteinemia
Primary carnitine deficiency
Tangier disease
Menkes syndrome
more...
Rare diseases
Malonic aciduria
Barraquer-Simons Syndrome
Newborn screening
Menkes syndrome
Skin conditions resulting from errors in metabolism
Apolipoprotein B deficiency
Combined hyperlipidemia
Lipoid proteinosis
Adrenoleuk- odystrophy
Tangier disease
Xanthoma
Lipid disorders
(15)
Familial hyperchole- sterolemia
Hypertrigl- yceridemia
Blood lipids
Cholesterol
Cholesterol Depletion
Cholesterol Depletion
Combined hyperlipidemia
High-density lipoprotein
Hyperchole- sterolemia
Hyperlipidemia
Hypocholesterolemia
Lipoprotein lipase deficiency
Lipoprotein(a)
Low-density lipoprotein
Mevalonate inhibition
Triglyceride
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Medicine
Diseases and disorders
Hypobetali- poproteinemia
Magnesium deficiency (medicine)
Hypolipoproteinemia
Biochemistry
Long-chain 3-hydroxya- cyl-coenzyme A
ACADVL
HADHA
Carnitine
EC number
Long-chain-acyl-CoA dehydrogenase
2,4 Dienoyl CoA reductase
3-Hydroxyacyl ACP dehydrase
3-Hydroxyacyl CoA dehydrogenase
Thiolase
See also
(13)
Mitochondrial trifunctional protein
Acyl CoA dehydrogenase
Enzymes
Lipoprotein
Carnitine-- acylcarnitine translocase
Carnitine-- acylcarnitine translocase
Carnitine palmitoylt- ransferase II
Long chain
Beta oxidation
ACADM
Autosomal recessive
Mitochondrial
Long chain fatty acid
Acetyl coa
more...
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