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)

Prolidase deficiency is an autosomal recessive disorder that is associated with chronic cutaneous ulcers, mental retardation, unusual facial appearance, skeletal deformities, joint dislocations, hematological anomalies, splenomegaly, and chronic infections. The most typical finding is chronic, recurrent leg ulcers appearing in early childhood. Prolidase (peptidase-D) is necessary for collagen biosynthesis and its deficiency leads to impairment in connective tissue of the skin, capillaries, and lymphatic vessels. We report a 33-year-old woman who had a 15-year history of nonhealing ulcer on left pretibial region accompanied by splenomegaly, hypochromic microcytic anemia, and thrombocytopenia. Prolidase deficiency is a rare genodermatosis and must be considered in the differential diagnosis of leg ulcers that develop at an early age.
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PMID:Ulcus cruris associated with prolidase deficiency. 1745 10

Micronutrients are essential to sustain life and for optimal physiological function. Widespread global micronutrient deficiencies (MNDs) exist, with pregnant women and their children under 5 years at the highest risk. Iron, iodine, folate, vitamin A, and zinc deficiencies are the most widespread MNDs, and all these MNDs are common contributors to poor growth, intellectual impairments, perinatal complications, and increased risk of morbidity and mortality. Iron deficiency is the most common MND worldwide and leads to microcytic anemia, decreased capacity for work, as well as impaired immune and endocrine function. Iodine deficiency disorder is also widespread and results in goiter, mental retardation, or reduced cognitive function. Adequate zinc is necessary for optimal immune function, and deficiency is associated with an increased incidence of diarrhea and acute respiratory infections, major causes of death in those <5 years of age. Folic acid taken in early pregnancy can prevent neural tube defects. Folate is essential for DNA synthesis and repair, and deficiency results in macrocytic anemia. Vitamin A deficiency is the leading cause of blindness worldwide and also impairs immune function and cell differentiation. Single MNDs rarely occur alone; often, multiple MNDs coexist. The long-term consequences of MNDs are not only seen at the individual level but also have deleterious impacts on the economic development and human capital at the country level. Perhaps of greatest concern is the cycle of MNDs that persists over generations and the intergenerational consequences of MNDs that we are only beginning to understand. Prevention of MNDs is critical and traditionally has been accomplished through supplementation, fortification, and food-based approaches including diversification. It is widely accepted that intervention in the first 1,000 days is critical to break the cycle of malnutrition; however, a coordinated, sustainable commitment to scaling up nutrition at the global level is still needed. Understanding the epidemiology of MNDs is critical to understand what intervention strategies will work best under different conditions.
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PMID:The epidemiology of global micronutrient deficiencies. 2604 25

Hamamy syndrome (HS) is an autosomal recessive syndrome with a genetic origin that is very rarely observed. The syndrome with craniofacial dysmorphisms, including midface prominence, severe telecanthus, sparse lateral eyebrows, protruding ears, fronto-nasal abnormalities, lacrimal-salivary apparatus agenesis, thin upper vermillion border, myopia, mental retardation, sensorineural hearing impairment, congenital heart anomalies with intraventricular conduction delay, hypochromic microcytic anaemia and skeletal abnormalities of the long bones with recurrent fractures. In this paper, we report a case of two brothers diagnosed with HS at the ages of 25 and 18 years, visited out clinic at different times due to dental reasons. In the radiological examinations, it was observed that both brothers have sphenoid sinuses agenesia, and their sella turcica were smaller than normal. HS may be observed very rarely, and it should be kept in mind that, in addition to various symptoms, it may also cause sphenoid sinus agenesis and sella turcica hypoplasia as shown for the first time in this case report.
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PMID:Sphenoid sinus agenesis and sella turcica hypoplasia: very rare cases of two brothers with Hamamy syndrome. 3286 86