Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation

Prenatal Diagnosis

Volumn 21, Issue 1, 2001, Pages 52-54

  Rinaldo, P ^a   Studinski, A L ^a   Matern, D ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2,4 DIENOYL COENZYME A REDUCTASE (NADPH); CARNITINE PALMITOYLTRANSFERASE; HYDROXYMETHYLGLUTARYL COENZYME A LYASE; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE; HYDROXYMETHYLGLUTARYL COENZYME A SYNTHASE; MEDIUM CHAIN 3 KETOACYL COENZYME A THIOLASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; MEMBRANE ENZYME; MITOCHONDRIAL ENZYME; SHORT CHAIN 3 HYDROXYACYL COENZYME A DEHYDROGENASE; UNCLASSIFIED DRUG;

ENERGY BALANCE; ENZYME DEFICIENCY; FATTY ACID TRANSPORT; FATTY LIVER; HELLP SYNDROME; MITOCHONDRIAL RESPIRATION; NOTE; PLACENTA DISORDER; PREECLAMPSIA; PREGNANCY COMPLICATION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; STRESS;

BIOLOGICAL TRANSPORT; DNA MUTATIONAL ANALYSIS; FATTY ACIDS; FEMALE; HUMANS; LIPID METABOLISM, INBORN ERRORS; MITOCHONDRIA; OXIDATION-REDUCTION; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0035142803     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200101)21:1<52::AID-PD973>3.0.CO;2-H     Document Type: Note

References (16)

1. DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency
2. Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency
3. Inborn errors of mitochondrial fatty acid oxidation
4. Carnitine palmitoyltransferase deficiencies
5. Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death: Postmortem diagnosis, prenatal exclusion in subsequent pregnancies, and biochemical specificity of the mitochondrial translocase
6. A fetal fatty acid oxidation disorder causes maternal liver disease of pregnancy
7. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency
8. Prenatal diagnosis of mitochondrial fatty acid oxidation defects
9. The HELLP syndrome associated with fetal medium-chain acyl-CoA dehydrogenase deficiency
10. Sudden neonatal death in carnitine transporter deficiency
11. Recent developments in the investigation of inherited metabolic disorders using cultured human cells
12. Acylcarnitines produced by cultured fibroblasts of patients with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and other disorders of fatty acid oxidation
13. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines
14. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic considerations in 30 patients
15. Disorders of mitochondrial fatty acyl-CoA beta-oxidation
16. Prenatal diagnosis of glutaric aciduria type II due to electron transfer flavoprotein (β-subunit) deficiency and the time course of metabolite excretion after birth