Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Children with chronic metabolic acidosis should be investigated to determine the presence of an organic acid, especially when the plasma electrolyte profile shows a deficiency of anion. One of the organic acids that should be looked for in such a patient is lactic acid. Lactic acidosis due to tissue hypoxia is a well-known phenomenon (e.g., in shock and cardiopulmonary disease) and has not been discussed in this essay; nor has lactic acidosis due to exogenous causes like infusion of fructose or sorbitol, or admiministration of phenformin. Chronic lactic acidosis in infancy is a rare condition. It may be associated with glycogen storage disease Type 1, fructose diphosphatase deficiency, methylmalonic acidemia, propionic acidemia, pyruvate carboxylase or dehydrogenase deficiency and Leigh's subacute necrotizing encephalomyelopathy (SNE). Some patients with chronic lactic acidosis do not have nay of these diseases and comprise an "idiopathic" group. This is a heterogeneous group, probably having several different causes for the metabolic error. In Leigh's SNE, a metabolic block in the formation of thiamine triphosphate in brain has been demonstrated and has been attributed to the presence of an inhibitor of thiamine pyrophosphate-adenosine triphosphate (TPP-ATP) phosphoryl transferase in body fluids. The inhibitor has also been encountered in cases of intermittent cerebellar ataxia and of primary hypoventilation (Ondine's curse), which may represent variants of Leigh's disease. Increased blood levels of lactate, pyruvate and alanine frequently are encountered in SNE, but it still is not clear whether they are due to a primary or secondary disturbance in the catabolism of pyruvate. Disturbed lactate and pyruvate metabolism has also been encountered in isolated cases of mental retardation and growth failure, in mitochondrial myopathies and in polyneuropathies, and may be expected to occur in Wernicke's encephalopathy. Finally, it has been noted in malignancy and in association with other rare metabolic disorders.
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PMID:Lactic acidosis in childhood. 17 59

To explore the frequency and prognosis of neurological complications of acute lymphocytic leukemia, retrospective studies were made of patients with acute lymphocytic leukemia. Neurological complications were found in 13 of 100 patients during and after treatment. They were caused by chemotherapy in 8 patients, irradiation therapy in 2, vitamin B1 deficiency in 1, and unknown in 2. Medications primarily relevant to these complications were methotrexate in 5 patients, L-asparaginase in 2, cytosin arabinoside in 1. The patients were diagnosed as having leukoencephalopathy (8), cerebrovascular injury (4), and Wernicke's encephalopathy (1). Symptomatic epilepsy was found in one patient, and mental retardation was seen in three patients during a 2-year course of treatment. We conclude that careful management is required in the treatment of acute lymphocytic leukemia, because of the persistence of neurological complications, although their severity is decreasing with advances in treatment.
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PMID:[Neurological complications during and after the treatment of acute lymphocytic leukemia]. 1671 33

Wernicke's encephalopathy (WE) is an acute neurological disease resulting from thiamine (vitamin B1) deficiency. WE is often caused by an unbalanced diet or excessively strict diet therapy in pediatric cases. We experienced 2 cases of WE due to excessive intake of isotonic drink. Patient 1 was a 15-month-old boy. After frequent vomiting, he presented with mental status changes, ocular abnormalities, and truncal ataxia (the classic triad). Patient 2 was a 7-month-old boy. He was hospitalized because of status epilepticus. In both cases, the clinical symptoms improved immediately after the administration of vitamin B1. However, mental retardation was observed as a neurological sequel in patient 2. Because many patients with WE present with vomiting at an early stage, we should take care not to confuse WE with gastroenterocolitis. In addition, it should be noted that some patients with WE present with seizure. Because these 2 cases resulted from an unbalanced diet, it is important to evaluate the patients' eating and drinking habits and advise their parents on proper nutrition. Since many people believe that isotonic drinks are very beneficial and consume them frequently, we should promote awareness that they can be harmful when consumed in excess.
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PMID:[Wernicke's encephalopathy due to excessive intake of isotonic drink; report of 2 cases]. 2462 Apr 29