Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation

Rinaldo, Piero; Studinski, April; Matern, Dietrich

doi:10.1002/1097-0223(200101)21:1<52::aid-pd973>3.0.co;2-h

Cited by 30 publications

(17 citation statements)

References 16 publications

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“…Some laboratories also prefer testing dried blood spots, an approach that facilitates ease of specimen transport and may increase the sensitivity of detecting disorders of longchain FAO. 21 15 ACP can also be performed in various tissues including cultured fibroblasts, lymphocytes, and amniocytes, as well as homogenized liver and muscle.…”

Section: Sample Typesmentioning

confidence: 99%

Acylcarnitine profile analysis

Rinaldo

Cowan

Matern

2008

Genetics in Medicine

203

155

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These Technical Standards and Guidelines were developed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the clinical laboratory geneticist should apply his or her own professional judgment to the specific circumstances presented by the individual patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular standard or guidelines was adopted, and to consider other relevant medical and scientific information that becomes available after that date.

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Section: Sample Typesmentioning

confidence: 99%

Acylcarnitine profile analysis

Rinaldo

Cowan

Matern

2008

Genetics in Medicine

203

155

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“…Prenatal diagnosis of most FAOD is possible by molecular genetic, enzyme, or metabolite analyses using chorionic villi, amniotic fluid, or amniocyte cultures (56). Although FAOD are associated with high morbidity and mortality, it must be remembered that some FAOD, like MCAD deficiency, which have an excellent prog- Figure 2.…”

Section: Laboratory Investigation Of Faodmentioning

confidence: 99%

Fetal Fatty Acid Oxidation Disorders, Their Effect on Maternal Health and Neonatal Outcome: Impact of Expanded Newborn Screening on Their Diagnosis and Management

Shekhawat

Matern²,

Strauss

2005

Pediatr Res

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Mitochondrial fatty acid oxidation disorders (FAOD) are recessively inherited errors of metabolism. Newborns with FAOD typically present with hypoketotic hypoglycemia, metabolic acidosis, hepatic failure, and cardiomyopathy. Late presentations include episodic myopathy, neuropathy, retinopathy, and arrhythmias. Sudden unexpected death can occur at any age and can be confused with sudden infant death syndrome. Some FAOD are associated with intrauterine growth restriction, prematurity, and pregnancy complications in the heterozygous mother, such as severe preeclampsia, acute fatty liver of pregnancy (AFLP), or hemolysis, elevated liver enzymes, and low platelets (HELLP) syndrome. Maternal pregnancy complications occur primarily in mothers carrying a fetus with long-chain L-3-hydroxyacyl CoA dehydrogenase deficiency or general trifunctional protein deficiencies. FAOD as a group represent the most common inborn errors of metabolism, and presymptomatic diagnosis of FAOD is the key to reduce morbidity and avoid mortality. The application of tandem mass spectrometry to newborn screening provides an effective means to identify most FAOD patients presymptomatically. At the beginning of 2005, 36 state newborn screening programs have mandated or adopted this technology resulting in a marked increase in the number of asymptomatic neonates with FAOD diagnosed. To ensure the long-term benefits of such screening programs, pediatricians and other health care providers must be educated about these disorders and their treatment. Fatty acids constitute the largest energy reserve in the body and play a crucial role in supplying energy-yielding substrates during periods of fasting and stress through the ␤-oxidation pathway (1). FAO provides nearly 80% of energy to organs like heart, liver, and skeletal muscles, especially during fasting when tissue glycogen stores become depleted. The ␤-oxidation pathway also generates ketone bodies, which are used by peripheral tissues and brain (2). This metabolic pathway is critical for the neonate who has limited glycogen reserve and a high metabolic rate leading to rapid metabolic decompensation if there is any perturbation of individual enzymes (3). FAOD are potentially fatal autosomal recessive disorders and are now diagnosed frequently in the perinatal and infantile periods. Mothers heterozygous for a FAOD and pregnant with an affected fetus may develop severe preeclampsia, AFLP, and the HELLP syndrome, and may deliver a premature, intrauterine growth-restricted (IUGR) infant (4).

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“…If the partner is confirmed to be a carrier, the risk of having an affected child is 50%, and prenatal or preimplantation genetic diagnosis can be offered. Such testing has not been reported for the myopathic form of CPT II deficiency (6).…”

Section: Discussionmentioning

confidence: 99%