Prenatal Diagnosis of Hereditary Tyrosinemia by Determination of Fumarylacetoacetase in Cultured Amniotic Fluid Cells

Ea, Kvittingen; Steinmann, Beat; Gitzelmann, R; Jv, Leonard; Andria, Generoso; Al, Børresen; Mossman, Jean; Micara, Giulietta; Lindblad, Bengt

doi:10.1203/00006450-198519040-00002

Cited by 23 publications

(5 citation statements)

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“…These procedures involve the direct measurement of succinylacetone by combined gas chromatography and mass spectrometry in amniotic fluid, FAH enzymatic activity, and the measurement of the ability of succinylacetone to inhibit aminolevulinic dehydrase activity in cultured amniotic fluid or chorionic villus cells. 180 The carrier state for type II tyrosinemia has not been detected biochemically, and prenatal diagnosis is not currently available. The inheritance of neonatal tyrosinemia is unclear.…”

Section: Inheritancementioning

confidence: 99%

Newborn Screening Fact Sheets

Kaye¹

2006

Pediatrics

154

110

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Newborn screening fact sheets were last revised in 1996 by the American Academy of Pediatrics Committee on Genetics. This revision was prompted by advances in the field since 1996, including technologic innovations, as well as greater appreciation of ethical issues such as those surrounding informed consent. The following disorders are discussed in this revision of the newborn screening fact sheets: biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia. A series of topics related to newborn screening is discussed in a companion publication to this electronic publication of the fact sheets (available at: www.pediatrics.org/cgi/content/full/118/3/1304). These topics are newborn screening as a public health system; factors contributing to the need for review of the newborn screening system; informed consent; tandem mass spectrometry; DNA analysis in newborn screening; status of newborn screening in the United States; and the effect of sample timing, preterm birth, diet, transfusion, and total parenteral nutrition on newborn screening results.

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Section: Inheritancementioning

confidence: 99%

Newborn Screening Fact Sheets

Kaye¹

2006

Pediatrics

154

110

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“…FAH activity is detectable in most human diseased hepatocytes caused by the accumulation of toxic metabotissues including the liver, kidney, lymphocytes, fibroblasts, and lites is likely to be one of the mechanisms leading to liver dysfunccultured amniotic cells. [31][32][33] The diagnosis of HT-I can be contion in HT-I. firmed by measuring FAH activity in skin fibroblasts, but FAH activity can also be measured in lymphocytes or erythrocytes.…”

mentioning

confidence: 99%

Current Strategies for the Treatment of Hereditary Tyrosinemia Type I

et al. 2006

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Hereditary tyrosinemia type I (HT-I) is the most common of the three known diseases caused by defects in tyrosine metabolism. This type of tyrosinemia is caused by a mutation in the gene coding for fumarylacetoacetate hydrolase; several mutations in this gene have been identified. The main clinical features of HT-I are caused by hepatic involvement and renal tubular dysfunction. Dietary intervention with restriction of phenylalanine and tyrosine together with supportive measures can ameliorate the symptoms, but given the high risk for hepatocellular carcinoma, a cure for these patients has so far been possible only with liver transplantation. Pharmacologic treatment with nitisinone, a peroral inhibitor of the tyrosine catabolic pathway, offers an improved means of treatment for patients with HT-I. However, longer follow-up periods are needed to establish the role of this drug in ultimately protecting patients from end-stage organ involvement and hepatocellular carcinoma. Experimental work in mice has provided some promise for the future management of tyrosinemia with gene therapy.

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“…A 41-y-old healthy female presumed to be homozygous for the pseudodeficiency gene 7and three tyrosinemia families with complex genotypes were investigated for FAH immunoreactivity in fibroblasts. Family 1, in which the father was compound heterozygous for tyrosinemia and pseudodeficiency, has been reported previously (8). The child with tyrosinemia in this family presented at 12 mo of age with abdominal distension, hepatomegaly, jaundice (slight), abnormal liver tests, and rickets.…”

Section: Methodsmentioning

confidence: 91%

“…Healthy individuals who are homozygotes for the pseudodeficiency gene or compound heterozygous for pseudodeficiency and tyrosinemia have enzyme activity in fibroblasts nearly as low as that in tyrosinemia patients. If one or both parents in a tyrosinemia family have a compound heterozygous genotype, prenatal diagnosis by enzyme assay is not feasible because a low enzyme activity is not conclusive for tyrosinemia (8). If, in such families, the pseudodeficiency gene product gave immunoreactivity but the tyrosinemia gene product did not, immunoblotting could be of help in prenatal diagnosis.…”

Section: Etoacetase and In Three Tvrosinemia Families In Which One Omentioning

confidence: 99%