The inborn errors of mitochondrial fatty acid oxidation (Q28290744)

Journal of Inherited Metabolic Disease

Europe PubMed Central

title

The inborn errors of mitochondrial fatty acid oxidation (English)

0 references

0 references

C Vianey-Liaud

1

0 references

P Divry

series ordinal

2

0 references

N Gregersen

series ordinal

3

0 references

M Mathieu

series ordinal

4

0 references

language of work or name

English

0 references

publication date

1987

0 references

published in

0 references

volume

10 Suppl 1

0 references

page(s)

159-200

0 references

cites work

Variation in plasma ketone bodies during a 24-hour fast in normal and in hypoglycemic children: relationship to age.

1 reference

12 December 2020

A method for the isolation, identification, and quantitation of water-soluble aliphatic acylcarnitines

1 reference

12 December 2020

Carnitine metabolism and inborn errors

1 reference

12 December 2020

Glutaryl-CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II

1 reference

12 December 2020

Microsomal dehydrogenation of omega1- and omega2-hydroxy fatty acids

1 reference

12 December 2020

In vivo studies on the metabolism of hexanedioic acid

1 reference

12 December 2020

Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.

1 reference

12 December 2020

Recurrent Hypoglycemia Associated with Glutaric Aciduria Type II in an Adult

1 reference

12 December 2020

Non-ketotic C6-C10-dicarboxylic aciduria: biochemical investigations of two cases

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome.

1 reference

12 December 2020

Urinary excretion of C4--C10-dicarboxylic acids and antiketogenic properties of adipic acid in ketogenic-stimulated rats due to diabetes, long-chain and short-chain monocarboxylic acids

1 reference

12 December 2020

Riboflavin deficiency and beta-oxidation systems in rat liver

1 reference

12 December 2020

Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase

1 reference

12 December 2020

Dicarboxylic aciduria: The response to fasting

1 reference

12 December 2020

Regional Cerebral Na+K+ ATPase Activity following Octanoate Administration

1 reference

12 December 2020

Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

1 reference

12 December 2020

Electron transfer flavoprotein from pig liver mitochondria. A simple purification and re-evaluation of some of the molecular properties

1 reference

12 December 2020

Reaction of electron-transfer flavoprotein with electron-transfer flavoprotein-ubiquinone oxidoreductase

1 reference

12 December 2020

Cyanide-insensitive and clofibrate enhanced beta-oxidation of dodecanedioic acid in rat liver. An indication of peroxisomal beta-oxidation of N-dicarboxylic acids

1 reference

12 December 2020

Researches on fat metabolism. II.

1 reference

12 December 2020

Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency.

1 reference

12 December 2020

Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.

1 reference

12 December 2020

The differential diagnosis of dicarboxylic aciduria.

1 reference

12 December 2020

Glutaric aciduria type II: in vitro studies on substrate oxidation, acyl-CoA dehydrogenases, and electron-transferring flavoprotein in cultured skin fibroblasts

1 reference

12 December 2020

Glutaric aciduria type II: biochemical investigation and treatment of a child diagnosed prenatally

1 reference

12 December 2020

Acyl-CoA: glycine N-acyltransferase: in vitro studies on the glycine conjugation of straight- and branched-chained acyl-CoA esters in human liver

1 reference

12 December 2020

Acyl-CoA synthetase and the peroxisomal enzymes of β-oxidation in human liver. Quantitative analysis of their subcellular localization

1 reference

12 December 2020

The possible antiketogenic and gluconeogenic effect of the omega-oxidation of fatty acids in rats

1 reference

12 December 2020

General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases

1 reference

12 December 2020

Fatty acid oxidation in mitochondria from needle biopsy samples of human skeletal muscle

1 reference

12 December 2020

Multiple acyl-CoA dehydrogenase deficiency occurring in pregnancy and caused by a defect in riboflavin metabolism in the mother. Study of a kindred with seven deaths in infancy: Value of riboflavin therapy in preventing this syndrome

1 reference

12 December 2020

Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

Medium-chain triglyceride medication as a pitfall in the diagnosis of non-ketotic C6-C10-dicarboxylic acidurias

1 reference

12 December 2020

Participation of the microsomal electron transport system involving cytochrome P-450 in omega-oxidation of fatty acids

1 reference

12 December 2020

Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism

1 reference

12 December 2020

A spectrophotometric procedure for rapid and sensitive measurements of beta-oxidation. Demonstration of factors that can be rate-limiting for beta-oxidation

1 reference

12 December 2020

Intracellular localization of catalase and of some oxidases in rat liver

1 reference

12 December 2020

Separation and properties of five distinct acyl-CoA dehydrogenases from rat liver mitochondria. Identification of a new 2-methyl branched chain acyl-CoA dehydrogenase

1 reference

12 December 2020

Purification and Properties of Rat Liver Acyl-CoA Dehydrogenases and Electron Transfer Flavoprotein1

1 reference

12 December 2020

A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.

1 reference

12 December 2020

Novel tritium release assays for isovaleryl-CoA and butyryl-CoA dehydrogenases

1 reference

12 December 2020

C6--C10-dicarboxylic aciduria in starved, fat-fed and diabetic rats receiving decanoic acid or medium-chain triacylglycerol. An in vivo measure of the rate of beta-oxidation of fatty acids

1 reference

12 December 2020

OMEGA-OXIDATION OF LONG CHAIN FATTY ACIDS IN RAT LIVER

1 reference

12 December 2020

Octanoic acidemia and octanoylcarnitine excretion with dicarboxylic aciduria due to defective oxidation of medium-chain fatty acids

1 reference

12 December 2020

Stimulation of microperoxisomal beta-oxidation in rat heart by high-fat diets

1 reference

12 December 2020

Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in beta-oxidation of fatty acids

1 reference

12 December 2020

(omega-1)-Hydroxymonocarboxylic acids in urine of infants fed medium-chain triglycerides

1 reference

12 December 2020

Glutaric aciduria Type II

1 reference

12 December 2020

Glutaric aciduria type II: multiple defects in isolated muscle mitochondria and deficient beta-oxidation in fibroblasts

1 reference

12 December 2020

In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria: evidence for a defect in general acyl-CoA dehydrogenase

1 reference

12 December 2020

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

1 reference

12 December 2020

The syndrome of systemic carnitine deficiency: Clinical, morphologic, biochemical, and pathophysiologic features

1 reference

12 December 2020

Methylene-blue for riboflavin-unresponsive glutaricaciduria type II.

1 reference

12 December 2020

Hyperoctanoatemia and the hepatic encephalopathy of cirrhosis. 150 dosages in 61 patients (author's transl)

1 reference

12 December 2020

Profiles in altered metabolism. II--(omega -- 1)-hydroxyacid excretion in a case of episodic hypoglycemia

1 reference

12 December 2020

Studies on fatty acid omega-oxidation. Antiketogenic effect and gluconeogenicity of dicarboxylic acids

1 reference

12 December 2020

C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects

1 reference

12 December 2020

Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation

1 reference

12 December 2020

The urinary excretion of ethylmalonic acid: What level requires further attention?

1 reference

12 December 2020

The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS

1 reference

12 December 2020

Studies on omega-oxidation of fatty acids in vitro. I. Overall reaction and intermediate

1 reference

12 December 2020

Flux of palmitate through the peroxisomal and mitochondrial beta-oxidation systems in isolated rat hepatocytes

1 reference

12 December 2020

Systemic carnitine deficiency: Clinical, biochemical, and morphological cure with L-carnitine

1 reference

12 December 2020

Defects of metabolism of fatty acids in the sudden infant death syndrome

1 reference

12 December 2020

Biochemical studies in a patient with defects in the metabolism of acyl‐CoA and sarcosine: Another possible case of glutaric aciduria type II

1 reference

12 December 2020

The identification of acylcarnitines by desorption chemical ionization mass spectrometry

1 reference

12 December 2020

Ethylmalonic-adipic aciduria. In vivo and in vitro studies indicating deficiency of activities of multiple acyl-CoA dehydrogenases

1 reference

12 December 2020

The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts

1 reference

12 December 2020

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis.

1 reference

12 December 2020

Rat liver peroxisomes catalyze the beta oxidation of fatty acids

1 reference

12 December 2020

In vitro studies on the oxidation of medium-chain dicarboxylic acids in rat liver

1 reference

12 December 2020

The biological origin of ketotic dicarboxylic aciduria. In vivo and in vitro investigations of the omega-oxidation of C6-C16-monocarboxylic acids in unstarved, starved and diabetic rats

1 reference

12 December 2020

The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect

1 reference

12 December 2020

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts

1 reference

12 December 2020

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

1 reference

12 December 2020

Role of hemoprotein P-450 in fatty acid omega-hydroxylation in a soluble enzyme system from liver microsomes

1 reference

12 December 2020

Riboflavin-responsive ethylmalonic-adipic aciduria

1 reference

12 December 2020

Episodic hypoglycemia with psi-hydroxy fatty acid excretion

1 reference

12 December 2020

Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein

1 reference

12 December 2020

Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid

1 reference

12 December 2020

Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder

1 reference

12 December 2020

Peroxisomal and mitochondrial palmitoyl coenzyme A beta-oxidation activities in rat white adipose tissue and their regulation in hypothyroidism

1 reference

12 December 2020

Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency

1 reference

12 December 2020

A new iron-sulfur flavoprotein of the respiratory chain. A component of the fatty acid beta oxidation pathway

1 reference

12 December 2020

Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome

1 reference

12 December 2020

Antenatal diagnosis of glutaricaciduria type II

1 reference

12 December 2020

Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes

1 reference

12 December 2020

Glutaric acidemia type II: a form with deleterious intrauterine effects

1 reference

12 December 2020

Identification of beta-oxidation enzymes among peroxisomal polypeptides. Increase in Coomassie blue-stainable protein after clofibrate treatment.

1 reference

12 December 2020

Purification and characterization of isovaleryl coenzyme A dehydrogenase from rat liver mitochondria

1 reference

12 December 2020

Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids

1 reference

12 December 2020

Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia

1 reference

12 December 2020

Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria

1 reference

12 December 2020

Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria

1 reference

12 December 2020

Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency)

1 reference

12 December 2020

On the Role of Alcohol Dehydrogenase in omega-Oxidation of Fatty Acids

1 reference

12 December 2020

Tetracyano-2,2-bipyridineiron(iii), an improved electron acceptor for the spectrophotometric assay of beta-oxidation and of succinate dehydrogenase in intact mitochondria

1 reference

12 December 2020

Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. A cause of hypoglycemia in childhood.

1 reference

12 December 2020

Subunit structure of electron transfer flavoprotein

1 reference

12 December 2020

Characterization of the stimulatory effect of high-fat diets on peroxisomal beta-oxidation in rat liver

1 reference

12 December 2020

Sudden infant death and inherited disorders of fat oxidation

1 reference

12 December 2020

A fatty acyl-CoA oxidizing system in rat liver peroxisomes; enhancement by clofibrate, a hypolipidemic drug

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels

1 reference

12 December 2020

Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings.

1 reference

12 December 2020

Complementation analysis of fatty acid oxidation disorders

1 reference

12 December 2020

On the biologic origin of C6-C10-dicarboxylic and C6-C10-omega-1-hydroxy monocarboxylic acids in human and rat with acyl-CoA dehydrogenation deficiencies: in vitro studies on the omega- and omega-1-oxidation of medium-chain (C6-C12) fatty acids in h

1 reference

12 December 2020

Riboflavin-responsive defects of beta-oxidation

1 reference

12 December 2020

Dicarboxylic aciduria: deficient [1-14C]octanoate oxidation and medium-chain acyl-CoA dehydrogenase in fibroblasts

1 reference

12 December 2020

The purification and some properties of electron transfer flavoprotein and general fatty acyl coenzyme A dehydrogenase from pig liver mitochondria

1 reference

12 December 2020

Glutaric aciduria type II: Report on a previously undescribed metabolic disorder

1 reference

12 December 2020

Glutaric acidemia type II: clinical, biochemical, and morphologic considerations

1 reference

12 December 2020