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)

In this case report a near-term infant with Glucose 6-Phosphate Dehydrogenase (G6-PD) deficiency had an unconjugated bilirubin level of 703 on the 11th day of life but maintained his haemoglobin levels above 11 gm/dl. At 4 months of age he demonstrated the clinical picture of Kernicterus: profound sensorineural deafness and evidence of encephalopathy. However, by 15 months of age his abnormal cerebral and motor signs had regressed to a near-normal level in parallel with a gradual improvement in hearing, which also reached normal levels, first in the right ear, then in the left. At this age residual mental retardation has not been excluded but his communication skills, though delayed by 4-6 months, were moving towards the level when they would be appropriate for his age.
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PMID:Glucose 6-phosphate dehydrogenase deficiency with kernicterus: progressive late recovery from profound deafness. 957 22

Congenital disorders of glycosylation (CDG) are caused by enzymatic defects of the formation or processing of lipid-linked oligosaccharides and glycoproteins. Since the majority of proteins is glycosylated, a defect in a singular CDG enzyme leads to a multisytemic disease with secondary malfunction of thousands of proteins. CDG-Ij (DPAGT1-CDG) is caused by a defect of the human DPAGT1 (UDP-GlcNAc: Dolichol Phosphate N-Acetylglucosamine-1-Phosphotransferase), catalyzing the first step of N-linked glycosylation. So far the clinical phenotype of only one CDG-Ij patient has been described. The patient showed severe muscular hypotonia, intractable seizures, developmental delay, mental retardation, microcephaly and exotropia. Molecular studies of this patient revealed the heterozygous mutation c.660A>G (Y170C; paternal) in combination with an uncharacterized splicing defect (maternal). Two further mutations, c.890A>T (I297F) and c.162-8G>A as a splicing defect were detected when analyzing DPAGT1 in two affected siblings of a second family. We report two new patients with the novel homozygous mutation, c.341C>G (A114 G), causing a severe clinical phenotype, characterized by hyperexcitability, intractable seizures, bilateral cataracts, progressive microcephaly and muscular hypotonia. Both our patients died within their first year of life. With the discovery of this novel mutation and a detailed clinical description we extend the clinical features of CDG-Ij in order to improve early detection of this disease.
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PMID:Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. 2230 30