RESUMO
INTRODUCTION: Non-ketotic hyperglycinemia is a congenital error in the breakdown of glycine. The most common type is the classical neonatal form, which begins at the age of a few days with symptoms of lethargy, hypotonia, myoclonia, convulsions, apneas and, frequently, ends in death. Survivors usually develop intractable epilepsy and mental retardation. There is no effective treatment for this condition, but trials have been carried out with a therapy that diminishes the levels of glycine, benzoate (BZ), and another that blocks the excitatory effect in N-methyl-D-aspartate receptors: dextromethorphan (DTM). CASE REPORT: We report on the progress of a classical neonatal case, which began at the age of a few hours with hypotonia and stupor, without myoclonias or seizures, but with a suppression wave trace on the electroencephalogram (EEG). Cerebrospinal fluid (CSF) showed glycine levels of 141 micromol/L (the normal level is 6.66 +/- 2.66 micromol/L), with a CSF/plasma ratio of 0.19 (the normal ratio is < 0.02). Treatment was started on the thirteenth day with BZ and DTM, and alertness and eye fixation improved in just three days; at the same time the EEG readings become normal. The glycine level in plasma returned to normal at two months and that in CSF was considerably reduced, although with CSF/plasma levels that were still high. At present the patient is 4 years old, has never had convulsions, EEG results have always been normal, and continues with BZ, DTM, carnitine and diet. The patient has presented a high degree of hypermotoric behaviour, but is currently more attentive and more sociable, has been walking from the age of 35 months and has a quotient in the different areas of development of 40-50. CONCLUSIONS: The clinical progress made by our patient could be said to be anything but negligible, and we therefore recommend that treatment should be started as early as possible after diagnosis.
Assuntos
Benzoatos/uso terapêutico , Dextrometorfano/uso terapêutico , Antagonistas de Aminoácidos Excitatórios/uso terapêutico , Hiperglicinemia não Cetótica/tratamento farmacológico , Hiperglicinemia não Cetótica/fisiopatologia , Recém-Nascido Prematuro/metabolismo , Encéfalo/anatomia & histologia , Carnitina/administração & dosagem , Pré-Escolar , Dietoterapia , Feminino , Idade Gestacional , Glicina/sangue , Glicina/líquido cefalorraquidiano , Humanos , Hiperglicinemia não Cetótica/diagnóstico , Hiperglicinemia não Cetótica/patologia , Recém-Nascido , Masculino , Atividade Motora/fisiologia , Gravidez , Resultado do TratamentoRESUMO
We describe a prenatal diagnosis of a fetus at risk for non-ketotic hyperglycinaemia based on the glycine/serine ratio in amniotic fluid at 16 weeks of gestation. Although the glycine level and the glycine/serine ratio in amniotic fluid were within the normal range, the fetus was affected and therefore a false-negative prediction was made. The reliability of this method is questioned.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Líquido Amniótico/análise , Glicina/análise , Glicina/sangue , Diagnóstico Pré-Natal , Serina/análise , Feminino , Humanos , Gravidez , Segundo Trimestre da GravidezRESUMO
A new patient with neonatal lactic acidosis due to pyruvate carboxylase deficiency is described. Since birth he developed vomiting, hypothermia, lethargy, irritability, hypoglycemia and severe metabolic acidosis. During admission a progressive deterioration was observed. Despite different attempted therapies patient died at 4 1/2 months of age. High levels of plasma and urine lactate and pyruvate were detected. Enzymatic studies in cultures skin fibroblasts and postmortem tissues showed a severe deficiency of pyruvate carboxylase.