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)

Harthnup disease clinical picture without aminoaciduria or other identified metabolic disturb (New entity?). The authors present a patient with clinical picture superposed to the Hartnup disease's, a rare, autosomic and recessive metabolic disturbance, characterized by typical aminoaciduria consequent to tryptophan and other neutral aminoacids defective transport by jejunal mucous membrane and renal tubules, clinically expressed by photosensitive pellagra-like dermatitis, mental retardation and intermittent cerebellar ataxia. The laboratorial results did not confirm Hartnup aminoaciduria nor other identified metabolic change that justify his clinical manifestations.
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PMID:[Clinical picture of Hartnup disease. Without urine amino acids or any other identified metabolic disorder (a new entity)]. 207 8

Ten patients with biotinidase deficiency were studied. Clinical findings at presentation varied with dermatological signs (dermatitis and alopecia), neurological abnormalities (fits, hypotonia, and ataxia), and recurrent infections being the most common features, although none of these occurred in every case. Biochemically the disease is characterised by metabolic acidosis and organic aciduria. Treatment with biotin results in pronounced, rapid, clinical and biochemical improvement, but some patients have residual neurological damage comprising neurosensory hearing loss, visual pathway defects, ataxia, and mental retardation. The cause of this permanent damage remains obscure and it is not clear if the early introduction of treatment will prevent it.
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PMID:Biotinidase deficiency: a survey of 10 cases. 319 50

Self-inflicted dermatoses mainly refer to psychiatric disturbances such as psychoses, mental retardation, and personality disorders. Diagnostic clues are found in the nature and the evolution of the lesions as well as in the ambivalent combination of dependency on doctors and hostility toward them revealed in the patient's medical history. Management of dermatitis artefacta patients means dealing with the complex emotional issue of a basic antagonism in the dermatologist-patient relationship. Both the dermatologist and the dermatologic nursing staff should show an understanding and nonaggressive attitude.
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PMID:Dermatitis artefacta. 400 54

An attempt was made to quantify longitudinal morbidity and identify risk factors associated with high rates of skin breakdown in patients with myelomeningocele. Based on annual evaluations, 227 of 524 patients accounted for 468 positive observations including classic decubiti, abrasions, burns, and ammoniacal dermatitis. Forty-two percent (196) of skin breakdown was attributed to excessive pressure; 57% (267) to other causes; and 1% (5) to unknown causes. Prevalence curve revealed a steady rise from infancy to age 10 years, at which point rates varied between 20-25%. Longitudinal morbidity curves of first skin breakdown showed a tendency of lesions over the perineum or gibbus to appear more frequently in the presence of higher paraplegia (generalized Savage or Mantel-Cox, p = 0.05). However, mildly paraplegic and partially insensate patients exhibited relatively higher rates of breakdown over the lower extremities compared to more paraplegic patients. Higher rates of breakdown were associated with other characteristics such as mental retardation, large head size, kyphoscoliosis, and chronic soiling. Data confirm the high prevalence of skin breakdown in patients with myelomeningocele and reflect an overall influence of growth and development.
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PMID:Skin breakdown in patients with myelomeningocele. 684 29

A 14-year-old boy with mental retardation presented with severe thrombocytopenia, macrocytic anaemia and allergic dermatitis. He had been treated with valproate for seizures since the age of 2 years. Clinical examination showed severe purpura, mucous bleeding and extensive dermatitis. Tests to detect serum direct antiplatelet antibodies were positive and bone marrow examination revealed myelodysplastic abnormalities. Valproate was discontinued and both dermatitis and general condition of the child improved with normalization of the full blood count. This report suggests that valproate may produce both peripheral immune thrombocytopenia and severe bone marrow depression several years after the initiation of the therapy.
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PMID:Haematological disturbances during long-term valproate therapy. 803 31

Cockayne syndrome is a rare autosomal recessive disorder of childhood characterized by cachectic dwarfism with senile-like appearance, mental retardation, photosensitive dermatitis, loss of adipose tissue, pigmentary degeneration of retina, microcephaly, deafness, skeletal and neurologic abnormalities. We describe here an 18 year old boy with Cockayne syndrome who had, in addition to the typical features of the disorder, fasting hyperinsulinemia and growth hormone deficiency.
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PMID:Cockayne syndrome: a case with hyperinsulinemia and growth hormone deficiency. 806 22

Prolidase deficiency is a rare, inherited disorder characterized by ulceration of the skin, mental retardation, and massive urinary excretion of imidodipeptides. Most patients also have recurrent infections, an unusual facial appearance, and splenomegaly. We describe a girl presenting with chronic dermatitis, recurrent respiratory tract infections since her first months of life, and facial features characteristic of prolidase deficiency. The diagnosis of prolidase deficiency was made at 4.5 months of age. The immunologic study in this patient showed an extreme and progressive increase of total immunoglobulin E (IgE) in serum (reaching the value of 77,600 IU/l) and defective chemotactic function of the neutrophils. Treatment with a hyper-proteic diet supplemented with ascorbic acid, manganese chlorite, and topical proline resulted in reduction of the frequency and severity of the infections and significant improvement of the skin lesions. The authors discuss the immunologic alterations and the favorable evolution with treatment in this patient.
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PMID:Prolidase deficiency with hyperimmunoglobulin E: a case report. 1200 Apr 88

We report on an inbred Emirati family of Baluchi origin with ocular colobomas, ichthyosis, and endocrine abnormalities associated with midline brain malformations and mental retardation. All affected children had ocular colobomas, developmental delay and midline brain malformations. Hypoplastic pituitary gland was present in all three investigated children. Ichthyosiform dermatitis appeared in infancy in all surviving children. Other variable features include congenital heart defects, hypertrichosis and dark skin involving the dorsum of hands and feet associated with mild degree of palmo-plantar keratoderma. Some of the features in this family overlap the CHIME (Coloboma of the eye, Heart defect, Ichthyosiform dermatosis, Mental retardation, and Ear defect) syndrome. However, several features described in CHIME syndrome were not present in these children. These include deafness, seizures, oligodontia, and hair abnormalities. Some of the features in these children also overlap with septo-optic dysplasia (SOD) but optic nerve hypoplasia, mandatory for the diagnosis of SOD, was present in one child only. We suggest that these children have a new autosomal recessive syndrome of ocular colobomas and ichthyosis.
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PMID:A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. 1827 Oct 1

Biotin is a water-soluble vitamin that serves as an essential coenzyme for five carboxylases in mammals. Biotin-dependent carboxylases catalyze the fixation of bicarbonate in organic acids and play crucial roles in the metabolism of fatty acids, amino acids and glucose. Carboxylase activities decrease substantially in response to biotin deficiency. Biotin is also covalently attached to histones; biotinylated histones are enriched in repeat regions in the human genome and appear to play a role in transcriptional repression of genes and genome stability. Biotin deficiency may be caused by insufficient dietary uptake of biotin, drug-vitamin interactions and, perhaps, by increased biotin catabolism during pregnancy and in smokers. Biotin deficiency can also be precipitated by decreased activities of the following proteins that play critical roles in biotin homeostasis: the vitamin transporters sodium-dependent multivitamin transporter and monocarboxylate transporter 1, which mediate biotin transport in the intestine, liver and peripheral tissues, and renal reabsorption; holocarboxylase synthetase, which mediates the binding of biotin to carboxylases and histones; and biotinidase, which plays a central role in the intestinal absorption of biotin, the transport of biotin in plasma and the regulation of histone biotinylation. Symptoms of biotin deficiency include seizures, hypotonia, ataxia, dermatitis, hair loss, mental retardation, ketolactic acidosis, organic aciduria and also fetal malformations. This review focuses on the deficiencies of both biotin and biotinidase, and the medical management of such cases.
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PMID:Biotin and biotinidase deficiency. 1972 38

Prolidase deficiency is characterized by chronic ulcerative dermatitis, mental retardation, and frequent infections. In the present study we examined the characteristics of rat brain prolidase isoenzymes. Prolidase isoenzymes (PD I and PD II) were isolated from the rat brain using DEAE cellulose column chromatography. PD I showed higher activity against seryl-proline and alanyl-proline, while PD II was particularly active against methionyl-proline. Prolidase activity in the whole brain and in the different brain regions showed higher activity against methionyl-proline and seryl-proline. PD II activity was highest in the hippocampus, followed by the cerebellum, cerebral cortex, caudatum, and the midbrain. The most rapid changes in the activities of PD I and PD II occurred perinatally, with a peak at three days before birth and a nadir at two days after birth, which then gradually increased until 21 days. N-benzyloxycarbonyl-l-proline inhibited PD I activity against various substrates in a dose-dependent manner. In contrast, there was no inhibition of PD II activity against methionyl-proline at low concentrations. In summary, these data suggest that maintenance of levels of proline, other amino acids and peptides containing proline in the rat brain is regulated by prolidase isoenzymes. The age-related alterations in PD I and PD II also may help to elucidate the fundation of prolidase isoenzymes in brain nervous system.
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PMID:Activity of prolidase isoenzymes in the rat brain: subcellular and regional distribution during development. 1978 60


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