Recovery after dietary treatment of an infant with features of tyrosinosis.

Harries, J T; Seakins, J. W. T.; Ersser, R. S.; Lloyd, J. K.

doi:10.1136/adc.44.234.258

Cited by 16 publications

(3 citation statements)

References 20 publications

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“…We have now followed patient I for 18 months on a normal diet, ad libitum, and have found normal concentrations of all amino acids in the plasma. A similar experience was reported recently from England [13]. We have also followed another child with severe metabolic cirrhosis of long duration and unknown etiology, who first developed transient hypermethioninemia and later transient tyrosinemia with tyrosyluria, but who did not run a clinical course typical of hereditary tyrosinemia.…”

Section: Discussionmentioning

confidence: 71%

Biochemical Observations on So-called Hereditary Tyrosinemia

et al. 1970

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ExtractDecreased activities of methionine-activating enzyme (ATP: L-methionine-S-adenosyl-transferase, EG. 2.5.1.6) (23 and 18 versus normal 86 nmoles product produced/mg soluble protein/h) and cystathionine synthetase [30] (28 and 6 versus normal of 98 nmoles product produced/mg soluble protein/h) in the presence of normal activity of cystathionase [30] (104 and 108 versus normal of 125 nmoles product produced/mg soluble protein/h) were demonstrated in the liver of two patients with so-called hereditary tyrosinemia. This decreased activity also was associated with documented deficiency of jb-hydroxyphenylpyruvic acid oxidase, tyrosine transaminase, and phenylalanine hydroxylase with values of 3 and 1.2 versus normal of 60, 2.6 and 0.8 versus normal of 20, and 3.5 versus normal of 13.7 (imoles/g wet weight of liver/h, respectively (table II). In one patient, the biopsy was performed after the concentration of tyrosine in the plasma had been made normal (less than 1.0 mg/ 100 ml) for 3 months by dietary restriction (fig. 2). This patient has subsequently maintained normal concentrations of amino acids in the plasma on an ad libitum diet for 18 months. These findings give evidence that the abnormalities on the pathway of metabolism of methionine are independent of the abnormality in the metabolism of tyrosine and that the latter may be self-limiting in some cases (table I). SpeculationThese studies suggest that the hypertyrosinemia and the hypermethioninemia seen in so-called hereditary tyrosinemia are each nonspecific manifestations of a phenotype as yet unidentified. Whether or not methionine accumulates in the plasma in the presence of these defects in the transsulfuration pathway is probably a function of an enlarged free amino acid pool in the liver when protein synthesis in that organ is reduced.

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Section: Discussionmentioning

confidence: 71%

Biochemical Observations on So-called Hereditary Tyrosinemia

et al. 1970

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“…A dramatic improvement in the renal tubule handling of amino acids resulted, but the effect on the plasma amino acid abnormalities and the clinical state was disappointing. A temporary form of the disease has been described (Gaull et al, 1970;Harries et al, 1969;Pickering and Bower, 1972) in 3 infants in whom liver function and the amino acid abnormalities reverted to normal after some months of dietary treatment and continued so on a normal diet. A low phenylalanine, tyrosine, and methionine diet would therefore seem profitable in all cases of acute tyrosinaemia.…”

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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“…The following investigation was prompted by our experience with a patient to be described in a forthcoming paper (Harries et al, 1969). The investigations were carried out after our paper had been completed.…”

Section: Addendummentioning

confidence: 99%