Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

PubWeight™: 1.18‹?› | Rank: Top 10%

🔗 View Article (PMID 10657835)

Published in J Pediatr on February 01, 2000

Authors

G M Enns1, M J Bennett, C L Hoppel, S I Goodman, K Weisiger, C Ohnstad, M Golabi, S Packman

Author Affiliations

1: Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, CA 94143-0748, USA.

Articles citing this

Evidence for physical association of mitochondrial fatty acid oxidation and oxidative phosphorylation complexes. J Biol Chem (2010) 1.29

Metabolic cardiomyopathies. Int J Exp Pathol (2000) 1.19

Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases. J Inherit Metab Dis (2008) 0.89

The elusive magic pill: finding effective therapies for mitochondrial disorders. Neurotherapeutics (2013) 0.83

Mitochondrial disease in childhood: nuclear encoded. Neurotherapeutics (2013) 0.82

Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies. Biosci Rep (2015) 0.80

Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. J Inherit Metab Dis (2003) 0.78

Short-chain 3-hydroxyacyl-coenzyme A dehydrogenase associates with a protein super-complex integrating multiple metabolic pathways. PLoS One (2012) 0.78

Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease. Biosci Rep (2016) 0.78

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease. J Inherit Metab Dis (2015) 0.77

Defects in energy metabolism: coming of age, slowly. J Pediatr (2000) 0.77

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation. J Inherit Metab Dis (2003) 0.76

Articles by these authors

(truncated to the top 100)

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nat Genet (1993) 4.93

Effect of high-dose ibuprofen in patients with cystic fibrosis. N Engl J Med (1995) 4.82

Biochemical properties of subsarcolemmal and interfibrillar mitochondria isolated from rat cardiac muscle. J Biol Chem (1977) 4.22

AUX1 regulates root gravitropism in Arabidopsis by facilitating auxin uptake within root apical tissues. EMBO J (1999) 4.00

The crystal structure of diphtheria toxin. Nature (1992) 3.80

Comparative anatomy of the aldo-keto reductase superfamily. Biochem J (1997) 3.39

Plasma homocysteine levels and folate status in children with sickle cell anemia. J Pediatr Hematol Oncol (1999) 3.27

PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet (1999) 3.22

Cardio-facio-cutaneous syndrome phenotype in an individual with an interstitial deletion of 12q: identification of a candidate region for CFC syndrome. Am J Med Genet (2000) 3.22

Mitochondrial dysfunction in cardiac disease: ischemia--reperfusion, aging, and heart failure. J Mol Cell Cardiol (2001) 3.01

Mitochondrial disease in superoxide dismutase 2 mutant mice. Proc Natl Acad Sci U S A (1999) 2.91

Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell (1998) 2.80

AXR4 is required for localization of the auxin influx facilitator AUX1. Science (2006) 2.49

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet (2000) 2.48

The effect of childbirth on pelvic organ mobility. Obstet Gynecol (2003) 2.29

Globin gene expression in cultured erythroleukemic cells. J Mol Biol (1974) 2.28

Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood (1996) 2.19

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta (1983) 2.17

Oligomer formation by 3D domain swapping: a model for protein assembly and misassembly. Adv Protein Chem (1997) 2.17

Carnitine palmityltransferase. Location of two enzymatic activities in rat liver mitochondria. J Biol Chem (1972) 2.07

Antenatal screening in Oxford for fetal neural tube defects. Br J Obstet Gynaecol (1979) 2.06

Organization of immunoglobulin genes: reiteration frequency of the mouse kappa chain constant region gene. Proc Natl Acad Sci U S A (1974) 2.00

Direct inhibition of mitochondrial respiratory chain complex III by cell-permeable ceramide. J Biol Chem (1997) 1.97

Glutaric aciduria; a "new" disorder of amino acid metabolism. Biochem Med (1975) 1.91

Long term follow up of newborns tested with the auditory response cradle. Arch Dis Child (1984) 1.91

Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr (1992) 1.85

A comparison of globin genes in duck reticulocytes and liver cells. Biochem Biophys Res Commun (1972) 1.81

Decreased activities of ubiquinol:ferricytochrome c oxidoreductase (complex III) and ferrocytochrome c:oxygen oxidoreductase (complex IV) in liver mitochondria from rats with hydroxycobalamin[c-lactam]-induced methylmalonic aciduria. J Biol Chem (1991) 1.80

A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med (1999) 1.79

Predictive value of ultrasound measurement in early pregnancy: a randomized controlled trial. Br J Obstet Gynaecol (1982) 1.78

Mitochondrial expression and function of GAS-1 in Caenorhabditis elegans. J Biol Chem (2001) 1.78

Carnitine metabolism in the fasting rat. J Biol Chem (1978) 1.75

Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause. J Pediatr (1998) 1.74

Phenotypic variation in biotinidase deficiency. J Pediatr (1983) 1.74

Glutaric aciduria type I: a common cause of episodic encephalopathy and spastic paralysis in the Amish of Lancaster County, Pennsylvania. Am J Med Genet (1991) 1.74

Complex limbal choristomas in linear nevus sebaceous syndrome. Ophthalmology (1998) 1.74

Deletions of different segments of the long arm of chromosome 4. Am J Med Genet (1981) 1.72

Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality. Am J Med Genet (1987) 1.69

Novel auxin transport inhibitors phenocopy the auxin influx carrier mutation aux1. Plant J (2001) 1.67

Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Gastroenterol (1996) 1.66

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts. Biochem Med (1985) 1.64

Maternal serum-alpha-fetoprotein and low birth-weight. Lancet (1977) 1.64

Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and beta-hydroxyglutarate: explanation of the symptoms in glutaric aciduria? Clin Chim Acta (1976) 1.63

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry. J Inherit Metab Dis (2008) 1.63

The mottled gene is the mouse homologue of the Menkes disease gene. Nat Genet (1994) 1.61

Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet (1994) 1.60

A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr (1994) 1.59

Cellular copper transport. Annu Rev Nutr (1995) 1.56

Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. Pediatr Res (1985) 1.56

Aging selectively decreases oxidative capacity in rat heart interfibrillar mitochondria. Arch Biochem Biophys (1999) 1.54

Constitutive lambda DNA replication by lambda-C17, a regulatory mutant related to virulence. Virology (1968) 1.53

Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case. Am J Med Genet (1993) 1.52

Myocardial ischemia decreases oxidative phosphorylation through cytochrome oxidase in subsarcolemmal mitochondria. Am J Physiol (1997) 1.51

Use of high-fat formula for premature infants with bronchopulmonary dysplasia: metabolic, pulmonary, and nutritional studies. J Pediatr (1994) 1.50

Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nat Genet (1996) 1.49

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet (1998) 1.46

Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts. Proc Natl Acad Sci U S A (1985) 1.45

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. Am J Hum Genet (1995) 1.44

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab (2000) 1.44

Determination of plasma non-esterified fatty acids and triglyceride fatty acids by gas chromatography of their methyl esters after isolation by column chromatography on silica gel. J Chromatogr B Biomed Appl (1995) 1.43

Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest (2001) 1.43

Sjogren's syndrome. A case report with an additional diagnostic aid. Arch Intern Med (1966) 1.43

X-linked myotubular myopathy: a case report of prenatal and perinatal aspects. Pediatr Pathol (1992) 1.41

Mutational analysis of the transferrin receptor reveals overlapping HFE and transferrin binding sites. J Mol Biol (2001) 1.41

Comparison of the interactions of transferrin receptor and transferrin receptor 2 with transferrin and the hereditary hemochromatosis protein HFE. J Biol Chem (2000) 1.41

Ischemic injury to mitochondrial electron transport in the aging heart: damage to the iron-sulfur protein subunit of electron transport complex III. Arch Biochem Biophys (2001) 1.41

Myocardial ischemia selectively depletes cardiolipin in rabbit heart subsarcolemmal mitochondria. Am J Physiol Heart Circ Physiol (2001) 1.40

Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters. Hum Mol Genet (1997) 1.40

Subclavian cannulation with ultrasound: a novel method. Anaesthesia (2010) 1.39

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy. Proc Natl Acad Sci U S A (1995) 1.38

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds. J Pediatr (1991) 1.37

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet (1997) 1.36

Glutathionuria: inborn error of metabolism due to tissue deficiency of gamma-glutamyl transpeptidase. Biochem Biophys Res Commun (1975) 1.35

Aging skeletal muscle mitochondria in the rat: decreased uncoupling protein-3 content. Am J Physiol Endocrinol Metab (2001) 1.35

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts. J Clin Invest (1978) 1.35

Defects of metabolism of fatty acids in the sudden infant death syndrome. Br Med J (Clin Res Ed) (1985) 1.34

Hereditary defect of cobalamin metabolism (cblG mutation) presenting as a neurologic disorder in adulthood. N Engl J Med (1988) 1.32

Relationship between acid-soluble carnitine and coenzyme A pools in vivo. Biochem J (1980) 1.31

Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis (2007) 1.31

Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy. J Clin Invest (1987) 1.31

Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits. J Biol Chem (1978) 1.30

Quantitation of constant and variable region genes for mouse immunoglobulin lambda chains. Biochemistry (1976) 1.28

Aging decreases electron transport complex III activity in heart interfibrillar mitochondria by alteration of the cytochrome c binding site. J Mol Cell Cardiol (2001) 1.27

Fatality in paraquat poisoning. Singapore Med J (2010) 1.27

Thanatophoric dysplasia and cloverleaf skull. Am J Med Genet Suppl (1987) 1.26

Trials with the auditory response cradle. 1--Neonatal responses to auditory stimuli. Br J Audiol (1979) 1.25

Hepatic mitochondrial inner membrane properties and carnitine palmitoyltransferase A and B. Effect of diabetes and starvation. Biochem J (1985) 1.25

Development and evaluation of a spectrophotometric assay for complex III in isolated mitochondria, tissues and fibroblasts from rats and humans. Clin Chim Acta (1994) 1.25

Biochemical differences between subsarcolemmal and interfibrillar mitochondria from rat cardiac muscle: effects of procedural manipulations. Arch Biochem Biophys (1985) 1.25

The purification and characterization of glutaryl-coenzyme A dehydrogenase from porcine and human liver. J Biol Chem (1986) 1.23

Glutaric aciduria: biochemical and morphologic considerations. J Pediatr (1977) 1.23

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders. J Inherit Metab Dis (2000) 1.22

Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. Pediatr Res (1984) 1.22

Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet (1996) 1.21

Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes. Pediatr Res (1990) 1.21

O6-benzylguanine: a clinical trial establishing the biochemical modulatory dose in tumor tissue for alkyltransferase-directed DNA repair. Cancer Res (1999) 1.21

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion. Biochem Mol Med (1996) 1.20

Treatment of homocystinuria. Arch Dis Child (1967) 1.20

A syndrome resembling lathyrism associated with iminodipeptiduria. Am J Med (1968) 1.20

Deficiency of medium chain fatty acylcoenzyme A dehydrogenase presenting as the sudden infant death syndrome. Br Med J (Clin Res Ed) (1984) 1.19