Neonatal Hepatitis in Premature Infants Simulating Hereditary Tyrosinosis

Yu, Jingyou; Walker-Smith, J A; Burnard, E. D.

doi:10.1136/adc.46.247.306

Cited by 24 publications

(4 citation statements)

References 12 publications

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“…It has previously been shown that the clinical and biochemical findings in cases of neonatal hepatitis may be similar to those in cases of hereditary tyrosinosis [21,23]. In 1978, Thoene et aI.…”

Section: Discussionmentioning

confidence: 90%

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Clinical features and diagnostic approach in type I tyrosinaemia in an infant with cytomegaly virus infection and bacterial sepsis

et al. 1993

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A severely ill 2-month-old female infant was admitted with meningitis and septicaemia caused by Streptococcus pneumoniae. The patient, who also had an acute cytomegalovirus (CMV) infection, revealed the typical clinical and biochemical characteristics of type I tyrosinaemia (TIT). Clinical evidence of severe hepatocellular damage was shown, but urinary succinylacetone was not detected. The diagnosis of TIT was finally confirmed by decreased activity of fumarylacetoacetase (FAA) in skin fibroblasts from the patient and both parents. Following dietary treatment and after overcoming the bacterial and viral infection, the patient's liver function improved.

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Section: Discussionmentioning

confidence: 90%

“…No signs of rickets were apparent. Medical literature suggested that all the typical findings of TIT listed in Table 1 might also be a result of a connatal virus hepatitis [23] e.g. with CMV [21].…”

Section: Case Reportmentioning

confidence: 97%

Clinical features and diagnostic approach in type I tyrosinaemia in an infant with cytomegaly virus infection and bacterial sepsis

et al. 1993

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“…Nonhereditary tyrosinaemia and methioninaemia have been described in acute and chronic liver disease associated with cirrhosis (Levine and Conn, 1967) and with neonatal hepatitis (Carpenter, 1968;Yu, Walker-Smith, and Burnard, 1971). Here the levels of tyrosine and methionine revert to normal with recovery of hepatic function.…”

Section: Discussionmentioning

confidence: 99%

Hereditary tyrosinaemia. Clinical, enzymatic, and pathological study of an infant with the acute form of the disease.

Carson¹,

Biggart²,

Bittles³

et al. 1976

Archives of Disease in Childhood

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1976). Archives of Disease in Childhood, 51, 106. Hereditary tyrosinaemia: clinical, enzymatic, and pathological study of an infant with the acute from of the disease. A clinical, enzymatic, and pathological study of an infant with the acute form of hereditary tyrosinaemia is presented. Treatment with a diet low in methionine, tyrosine, and phenylalanine was unsuccessful. A selection of specific and nonspecific hepatic enzymes, obtained at necropsy within one hour of the infant's death at 91 weeks, were studied to try to throw light on the basic defect. The major pathological findings were those of a peculiar hepatic fibrosis associated with bile retention and an abnormal grouping of hepatocytes, islet-cell hyperplasia of the pancreas, and dilatation of the proximal renal tubules. Death was precipitated by bronchopneumonia and liver failure.The difficulty in diagnosing the acute form of tyrosinaemia is pointed out, especially in differentiating it from hereditary galactosaemia (transferase deficiency) and hereditary fructosaemia. All three may present with the same clinical symptoms and liver lesions, and the distinction must be made by enzyme studies and by therapeutic trial.Hereditary tyrosinaemia, a rare metabolic disorder with its onset in infancy or early childhood, was first described by Baber (1956)

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“…Liver disease has complicated the interpretation of the remaining patients reported with tyrosinemia (3,9,12,19) most of whom have come from a French-Canadian isolate in Quebec Province (12) or from Sweden or Norway (1,4,5). Patients reported from other parts of the world have varied widely in severity and have included 2 patients with tyrosinemia and liver disease whose disease remitted spontaneously at 12-18 months of age after a period of dietary treatment (3, 6).…”

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confidence: 99%

A New Form of Prolonged Transient Tyrosinemia Presenting With Severe Metabolic Acidosis

1975

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Yet another form of tyrosinemia is described, in a young baby who developed metabolic acidosis and ceased to grow when weaned from breast milk onto a higher protein formula. Severe tyrosyluria and mild tyrosinemia cleared on a low-protein diet which also corrected the acidosis. However, restoration of growth required a normal protein intake with very greatly reduced amounts of phenylalanine and tyrosine. The metabolic fault later resolved spontaneously at about 12 months of age. Mental development appears normal and liver disease was never apparent. The patient and her mother both excrete quite large quantities of an unidentified peptide.

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Neonatal Hepatitis in Premature Infants Simulating Hereditary Tyrosinosis

Cited by 24 publications

References 12 publications

Clinical features and diagnostic approach in type I tyrosinaemia in an infant with cytomegaly virus infection and bacterial sepsis

Clinical features and diagnostic approach in type I tyrosinaemia in an infant with cytomegaly virus infection and bacterial sepsis

Hereditary tyrosinaemia. Clinical, enzymatic, and pathological study of an infant with the acute form of the disease.

A New Form of Prolonged Transient Tyrosinemia Presenting With Severe Metabolic Acidosis

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