Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
نویسندگان
چکیده
A 4-month-old girl presented with myoclonic seizures and an electroencephalogram showing hypsarrhythmia. Hyperglycinuria and a cerebrospinal fluid to plasma glycine ratio of 0.2 suggested the diagnosis of non-ketotic hyperglycinaemia. Propionic acid and methyl citric acid were present in the urine, and propionyl coenzyme A carboxylase was deficient in leucocytes and fibroblasts. The ketotic and non-ketotic hyperglycinaemias cannot be differentiated by CSF: plasma glycine ratios.
منابع مشابه
Non-ketotic Hyperglycinaemia: A Case Report and Review on Treatment
Received July 10, 2001 Abstract Non-ketotic hyperglycinaemia (NKH) is a rare metabolic disease in Hong Kong. Only one case was reported in Hong Kong from literature search of the past ten years. We report a case with non-ketotic hyperglycinaemia who showed all the classical prenatal and postnatal clinical, biochemical and electroencephalographic features. Dextromethorphan, a non-competitive N-M...
متن کاملThe Carboxylation of Phosphoenolpyruvate and Pyruvate I. THE ACTIVE SPECIES OF “COz” UTILIZED BY PHOSPHOENOLPYRUVATE
Previous studies with propionyl coenzyme A carboxylase and with phosphoenolpyruvate carboxylase using ‘*O-labeled bicarbonate have indicated that bicarbonate is the reactive species in these fixations of “C02.” We have investigated the species of CO:! in reactions catalyzed by pyruvate carboxylase, P-enolpyruvate carboxykinase, and P-enolpyruvate carboxytransphosphorylase. Since propionyl-CoA c...
متن کاملThe effect of vitamin B12 deprivation on the enzymes of fatty acid synthesis.
The enzymes of fatty acid synthesis from liver and brain in normal and Blz-deprived rats were studied. Both total and specific activities of fatty acid synthetase and acetyl coenzyme A carboxylase were 2to 5-fold greater in Blz deprivation than in the normal state. The presence of excess activators in the BIp-deprived rat or an excess inhibitor in the normal rat was not found by serial admixtur...
متن کاملPaediatric Research Society 671
Propionicacidaemia in twins. F. Cockburn, M. D. Cohen, J. A. B. Darling, M. Giles, R. A. Harkness, and A. D. Nicol. (Departments of Child Life and Health and Paediatric Biochemistry, University of Edinburgh, and Simpson Memorial Maternity Pavilion, Royal Infirmary, Edinburgh.) A few infants with a serious metabolic disease associated with increased concentrations of propionic acid in the plasma...
متن کاملAcetyl coenzyme A carboxylase. The effects of biotin deficiency on enzyme in rat liver and adipose tissue.
Feeding a low fat, biotin-deficient diet to young rats for 1 to 2 weeks leads to a decrease in acetyl coenzyme A carboxylase levels in epididymal adipose tissue with accumulation of the apoenzyme. These changes occur prior to changes in hepatic propionyl coenzyme A carboxylase levels. Acetyl coenzyme A carboxylase levels in liver decrease minimally with biotin deficiency, and little apoenzyme a...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 18 2 شماره
صفحات -
تاریخ انتشار 1981