Homocystinuria: A new inborn error of Metabolism associated with Mental Deficiency

The Biosynthesis of Cystathionine in Patients with Homocystinuria

“…2 Concentration too high for accurate measurement. 3 The cystine peak was obscured by the large methionine peak. All tubes contained supernatant of post-mortem human liver homogenate (5.45 mg liver protein) from an infant who died of meningitis.…”

“…2 The cystine peak was obscured by the large methionine peak. 3 Concentration too high for accurate measurement by Technicon recorder. All tubes contained supernatant of'normal' liver homogenate (2.36 mg liver protein) from a 36-year-old female (subject A) and were incubated for 60 min.…”

“…A paternal cousin of this by mental retardation, iridodonesis, ectopia lentis, sei-patient, who was mentally normal but had homocystinzures, thrombo-embolic tendency, skeletal abnormal-uria, had cystathionine synthetase activity approximaities such as osteoporosis, dolichostenomelia and arachtely 10 % of that normally found in the liver [5]. It was nodactyly [3,23]. Intimal ridges were found in large also demonstrated that the brain of a homocystinuric and medium arteries resulting from fibrous thickening patient was deficient in cystathionine synthetase, but and fragmentation of elastic tissue in the vessel walls.…”

“…had normal activities of cystathionase and methionine activating enzyme [14]. The metabolic block in this disorder resulted in the accumulation of methionine and homocystine and a deficiency of cystathionine and endogenous cystine [2,3,9].…”

Psychiatric and biochemical aspects of a case of homocystinuria.

“…It was noted by Carson, Cusworth, Dent, Field, Neill, and Westall (1963) that a large number of relatives in one affected family was schizophrenic and subsequent case reports have recorded mentally ill relatives. There is one report in the literature of schizophrenia and homocystinuria occurring in the same patient (Spiro, Schimke, and Welch, 1965), the mother and five matemal relatives were also said to suffer from schizophrenia.…”