Studies on Tyrosinosis: 1, Effect of Low-tyrosine and Low-phenylalanine Diet

Abstract

RDITISH 1171 not improved by operation further emboli occurred in two, and two had emboli for the first time during the follow-up years. Three patients from grades 2 and 3 who had pre-operative emboli and two who had not had pre-operative emboli had emboli at operation. None of the patients who had good operative results had post-operative emboli. Thus, counting both the emboli at operation and during the three follow-up years, 10 of the 84 patients reviewed had emboli (12%). Bannister (1960) during an average of 3.4 years' follow-up reported an incidence of systemic emboli of 36% in patients with mitral stenosis over 40, and an overall mortality of 5% (1.5 % per year). If our patients did not have mitral valvotomy, 30 patients would have been expected to have emboli over a period of three years (36%). Our data suggests a reduction in the incidence of post-operative emboli, since 10 patients (12%) had further emboli. This is, however, associated with an operative mortality of 6%, a further mortality of 5% per year, and poor operative results, particularly in the group of patients who were in pre-operative grades 0 and 1 and might have been expected to do well. Significant mitral stenosis remains the indication for operation. Our results show that the occurrence of systemic emboli is not an additional reason for mitral valvotomy. In patients over 40 who have emboli, but only minimal mitral stenosis, anticoagulant treatment might be considered, although this carries its own difficulties and risks. Szekely (1964) reports a reduced incidence of emboli from 9.4% to 3.4% per year with anticoagulant treatment. One might also consider removal of the atrial appendage without interfering with the mitral valve as an alternative procedure. Summary A three-year follow-up is reviewed of 84 patients over the age of 40 who had mitral valvotomy at Guy's Hospital. The immediate mortality of mitral valvotomy was 6%, With a further mortality of 5% per year during the follow-up. The results in 34 patients who had had previous systemic emboli showed only 27% good results in respect of exercise tolerance compared with 47% in the non-emboli group. Thirteen patients who had minimal mitral stenosis and were operated on to prevent further emboli also had poor results. Six of the 84 patients had further emboli at operation and a further four had emboli during the three-year follow-up. The occurrence of emboli is not thought to be an additional reason for performing mitral valvotomy, and long-term anti-coagulant treatment might be used.

Tyrosinosis. A study of 6 cases.

“…Corticosteroid therapy was without effect in the case of Lelong et al (1963). The tyrosineand phenylalanine-restricted diet reported here and in previous papers (Halvorsen and Gjessing 1964; seems to be the logical treatment, and has been successful both in our case and in a similar case reported by Aronsson, Engleson, Jagenburg, and Palmgren (1966). The improvement has been most obvious in renal and bonemarrow function.…”

“…When the diagnosis of tyrosinosis was made, she was readmitted at the age of 23 months for a 4-week trial (May, 1964) with a low-tyrosine/low-phenylalanine diet (Halvorsen and Gjessing, 1964). Before the start of this diet her serum tyrosine level was 7 mg./100 ml.…”

Diseases of Jews

“…This patient is often reported as being the only case described (McKusick, 1966) and the condition appeared quite benign. However, there are several other reports in which it appears that a more severe degree of tyrosinosis may be associated with hepatic and renal damage and hypophosphataemic rickets; it is found in non-Jews (Halvorsen & Gjessing, 1964).…”

Clinical Biochemistry: Enzymatic Methods: Automation and Atomic Absorption Spectroscopy

“…The disease presents itself clinically as cirrhosis, vitamin D-resistant rickets, multiple renal tubular defects, an increase in blood tyrosine~ and the excretion of quite large amounts of tyrosine and tyrosine degradation compounds in the urine. Parahydroxyphenylpyruvic acid oxidase is absent from the livers and kidneys of patients with the disease (21). Mental retardation may occur but is not constant.…”

“…Patients treated with low phenylalanine and tyrosine diets have a reversal of the renal lesion without a concomitant improvement in liver function (21).…”