Trifunctional protein deficiency: Three families with significant maternal hepatic dysfunction in pregnancy not associated with E474Q mutation

Journal of Inherited Metabolic Disease

Volumn 23, Issue 8, 2000, Pages 826-834

  Chakrapani, A ^a   Olpin, S ^b   Cleary, M ^a   Walter, J H ^a   Wraith, J E ^a   Besley, G T N ^a  

^a ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^b SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYACYL COENZYME A DEHYDROGENASE; ACETYL COENZYME A ACYLTRANSFERASE; CARNITINE DERIVATIVE; GLUTAMIC ACID; GLUTAMINE;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; ENZYME ASSAY; ENZYME DEFICIENCY; ENZYME ISOLATION; FAMILIAL DISEASE; FEMALE; FETUS; FIBROBLAST; GENE MUTATION; GENETIC ANALYSIS; HUMAN; LIVER DYSFUNCTION; MALE; MATERNAL DISEASE; NEWBORN; PREGNANCY COMPLICATION; PROTEIN ANALYSIS;

3-HYDROXYACYL COA DEHYDROGENASES; FATAL OUTCOME; FATTY LIVER; FEMALE; FETAL DISEASES; HUMANS; INFANT, NEWBORN; MALE; MULTIENZYME COMPLEXES; POINT MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS;

EID: 0034515318     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1026712719416     Document Type: Article

References (20)

1. A fetal fatty acid oxidation disorder as a cause of liver disease in pregnant women
2. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterisation and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localisation of trifunctional protein alpha subunit
3. Hepatic carnitine palmitoyl transferase I deficiency presenting as maternal illness in pregnancy
4. Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: Molecular characterisation of a novel maternal mutant allele
5. 3H]myristic acids for the defects of fatty acid oxidation in intact cultured fibroblasts
6. Assessment of the prevalence of genetic metabolic defects in acute fatty liver of pregnancy
7. Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from newborn screening card by tandem mass spectrometry and DNA analysis
8. 3H]oleic acid
9. Acute fatty liver of pregnancy: A clinical study of 12 episodes in 11 patients
10. Recurrent acute fatty liver of pregnancy associated with a fatty-acid oxidation defect in the offspring
11. Maternal morbidity and mortality in 442 pregnancies with hemolysis, elevated liver enzymes and low platelets (HELLP syndrome)
12. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy
13. Inherited long chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications
14. Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
15. Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
16. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
17. Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
18. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid β-oxidation
19. Disorders of mitochondrial fatty acyl-CoA β-oxidation
20. Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A deficiency