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

A combined preventive scheme was conducted in four hospitals in Guangzhou to lower the rate of kernicterus and mental retardation caused by related neonatal jaundice due to G6PD deficiency. Observation was focused on 330 G6PD deficient infants, and the effects were measured according to the incidence of hyperbilirubinemia and kernicterus. The results, as compared to those of a retrospective study, showed that the incidence of hyperbilirubinemia was significantly decreased (51.4% to 21.2%), and neither kernicterus nor mental retardation infant was found in this series (12.5% in the control group). The authors conclude that this combined scheme is extremely effective and can be used in any large population area in which there is a high gene frequency of G6PD deficiency.
 ...
PMID:[Clinical study on the prevention of kernicterus caused by hereditary glucose-6-phosphate dehydrogenase deficiency]. 133 14

Over two years cord blood from 27 879 babies was screened for glucose-6-phosphate dehydrogenase (G6PD) deficiency. The overall incidence was 3.1% in boys and 1.6% in girls. Sixty nine babies had severe jaundice (bilirubin concentration greater than 380 mmol/l (20 mg/100 ml], and exchange transfusion was performed. Parents were given written and verbal instructions to avoid herbs and drugs that trigger kernicterus, which reduced the incidence of kernicterus and thereby prevented mental retardation. G6PD deficiency is common in all three ethnic groups (Malays, Chinese, and Indians) in Malaysia and screening is recommended.
 ...
PMID:Glucose-6-phosphate dehydrogenase deficiency: a preventable cause of mental retardation. 308 Jan 88

A 9-year-old Indian boy was found to have an aneurysm of the left internal carotid artery. The vessel was heavily atherosclerosed, and the distal segment of the artery was tortuous and dilated. Serum lipid estimations showed the presence of type IIB hyperlipoproteinemia, with evidence of the disease in the patient's identical twin sibling and 37-year-old father. There was also a marginal increase in serum triglycerides in a 4-year-old younger brother. The patient's 29-year-old mother was unaffected. The patient had suffered hemolytic disease as a newborn, which resulted in kernicterus and subsequent mental retardation. This incident is considered to have been the result of a proven glucose-6-phosphate dehydrogenase deficiency. The aneurysm was resected and arterial continuity was ensured by using an end-to-end anastomosis. Post-operative blood flow studies showed normal flow patterns in the reconstituted artery. Postoperatively, the patient's mental performance increased dramatically; it is hypothesized that such progress is the consequence of an improvement in the blood supply to the limbic system, following the operative procedure.
 ...
PMID:Internal carotid artery aneurysm: a singular anomaly. 638 12

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. Capicua transcriptional repressor (CIC) is an important gene associated with mental retardation, autosomal dominant 45. Affiliated tissues including skin, brain, bone, and related phenotypes are intellectual disability and seizures. Clinical, biochemical, and whole exome analysis are carried out in a Turkish family. Mutation analysis of G6PD and CIC genes by Sanger sequencing in the whole family was carried out to reveal the effect of these mutations on the patient's clinical outcome. Here, we present the case of epilepsy in an 8-year-old child with a hemizygous variation in G6PD gene and heterozygous mutation in CIC gene, resulting in focal epileptiform activity and hypsarrhythmia in electroencephalography (EEG), seizures, psychomotor retardation, speech impairment, intellectual disability, developmental regression, and learning difficulties. Whole exome sequencing confirmed the diagnosis of X-linked increased susceptibility for hemolytic anemia due to G6PD deficiency and mental retardation type 45 due to CIC variant, which explained the development of epileptic seizures. Considering CIC variant and relevant relation with the severity and course of the disease, G6PD mutations sustained through the family are defined as hereditary. Our findings could represent the importance of variants found in G6PD as well as CIC genes linked to the severity of epilepsy, which was presumed based on the significant changes in protein configuration.
 ...
PMID:The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency. 3253 12