Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0022568 (keratitis)
 5,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Down syndrome (DS) is the most common cause of mental retardation in North America, yet little information is available on the natural history of DS in adults. We report on significant medical problems of adults with DS (DS adults) residing in a British Columbia provincial residential center, Woodlands, over the 12-year period from 1981 through 1992. Prospective, yearly health care reviews on 38 DS adults are summarized according to age. Group 1 consists of 18 middle-aged DS adults less than 50 years old, and group 2 comprises 20 elderly DS adults 50 years and older. Significant health problems in all DS adults include untreated congenital heart anomalies (15. 8%), acquired cardiac disease (15.8%), pulmonary hypertension (7.8%), recurrent respiratory infections/aspiration leading to chronic pulmonary interstitial changes (30%), complications from presenile dementia/Alzheimer-type disease (42%), adult-onset epilepsy (36.8%), osteoarthritic degeneration of the spine (31.6%), osteoporosis with resultant fractures of the long bones (55%) or vertebral bodies (30%), and untreated atlantooccipital instability (7.9%). Acquired sensory deficits are significant problems including loss of vision due to early onset of adult cataracts (50%), recurrent keratitis (21%) or keratoconus (15.8%), and significant hearing loss (25%). Behavioral problems (50%), loss of cognitive abilities, and onset of symptoms of Alzheimer disease (group 1: 5.5%; group 2: 75%) pose ongoing challenges for care. In conclusion, the quality of life for adults with DS can be improved by routine, systematic health care screening to identify treatable diseases that may be missed because of poor communication or confusion due to Alzheimer disease.
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PMID:Health care concerns and guidelines for adults with Down syndrome. 1055 65

Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. Magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.
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PMID:IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. 1130 Dec 27

Tyrosinemia type II or Richner-Hanhart Syndrome (RHS) is an autosomal recessive disorder characterized by keratitis, palmoplantar keratosis, mental retardation, and elevated blood tyrosine levels. The disease is due to a deficiency of hepatic cytosolic tyrosine aminotransferase (TATc), an enzyme involved in the tyrosine catabolic pathway. Because of the high rate of consanguinity this disorder seems to be relatively common among the Arab and Mediterranean populations. RHS is characterized by inter and intrafamilial phenotypic variability. A large spectrum of mutations within TATc gene has been shown to be responsible for RHS. In the present study, we report the clinical features and the molecular investigation of RHS in three unrelated consanguineous Tunisian families including 7 patients with confirmed biochemical diagnosis of tyrosinemia type II. Mutation analyses were performed and two novel missense mutations were identified (C151Y) and (L273P) within exon 5 and exon 8, respectively. The 3D-structural characterization of these mutations provides evidence of defective folding of the mutant proteins, and likely alteration of the enzymatic activity. Phenotype variability was observed even among individuals sharing the same pathogenic mutation.
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PMID:Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations. 1657 53

Oculo-cutaneous tyrosinaemia type II is an autosomal recessive disease due to an abnormality of tyrosine metabolism, probably because of a deficiency of cytoplasmic tyrosine aminotransferase. It presents as a varying association of focal palmoplantar keratosis, bilateral keratitis and mental retardation. Herein, we report an 8-year-old boy with palmoplantar hyperkeratosis with peripheral oozing and dendritic keratitis appearing after the skin lesions. There was no mental deterioration despite the long delay in diagnosis of the disorder. The diagnosis was confirmed by the presence of hypertyrosinaemia and the absence of hepatorenal lesion. The child exhibited a remarkable degree of improvement in the hyperkeratotic lesions and keratitis after the dietary modifications were instituted. In conclusion, chronic focal bullous palmoplantar hyperkeratosis along with keratitis should alert the clinician to screen for abnormal serum and/or urine tyrosine level. Awareness of the presenting signs and symptoms may speed up the diagnosis and initiation of a tyrosine and phenylalanine-restricted diet that is most efficient in improving the symptoms and preventing visual and cognitive impairment.
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PMID:Oculocutaneous tyrosinaemia or tyrosinaemia type 2: a case report. 1668 90

Deficiency of the hepatic cytosolic enzyme tyrosine aminotransferase (TAT) causes marked hypertyrosinaemia leading to painful palmoplantar hyperkeratoses, pseudodendritic keratitis and variable mental retardation (oculocutaneous tyrosinaemia type II or Richner-Hanhart syndrome). Parents may therefore seek prenatal diagnosis, but this is not possible by biochemical assays as tyrosine does not accumulate in amniotic fluid and TAT is not expressed in chorionic villi or amniocytes. Molecular analysis is therefore the only possible approach for prenatal diagnosis and carrier detection. To this end, we sought TAT gene mutations in 9 tyrosinaemia II patients from three consanguineous Palestinian kindreds. In two kindreds (7 patients), the only potential abnormality identified after sequencing all 12 exons and exon-intron boundaries was homozygosity for a silent, single-nucleotide transversion c.1224G > T (p.T408T) at the last base of exon 11. This was predicted to disrupt the 5' donor splice site of exon 11 and result in missplicing. However, as TAT is expressed exclusively in liver, patient mRNA could not be obtained for splicing analysis. A minigene approach was therefore used to assess the effect of c.1224G > T on exon 11 splicing. Transfection experiments with wild-type and c.1224G > T mutant minigene constructs demonstrated that c.1224G > T results in complete exon 11 skipping, illustrating the utility of this approach for confirming a putative splicing defect when cDNA is unavailable. Homozygosity for a c.1249C > T (R417X) exon 12 nonsense mutation (previously reported in a French patient) was identified in both patients from the third kindred, enabling successful prenatal diagnosis of an unaffected fetus using chorionic villous tissue.
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PMID:TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. 1691 29

Richner-Hanhart syndrome (RHS, tyrosinemia type II) is a rare, autosomal recessive inborn error of tyrosine metabolism caused by tyrosine aminotransferase deficiency. It is characterized by photophobia due to keratitis, painful palmoplantar hyperkeratosis, variable mental retardation, and elevated serum tyrosine levels. Patients are often misdiagnosed with herpes simplex keratitis. We report on a a boy from Brazil who presented with bilateral keratitis secondary to RHS, which had earlier been misdiagnosed as herpes simplex keratitis.
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PMID:Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome. 2783 14

Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. Magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.
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PMID:IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. 3201 37


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