Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A mentally retarded, 10-year-old female with obesity, hypotonia, clumsiness and mild ocular abnormalities excreted in her urine large amounts of alpha-aminoadipic acid. Amino acid analyser studies and gas-liquid chromatography--mass spectrometry (GC--MS) confirmed the presence of alpha-aminoadipic acid in both urine and plasma but, in contrast to most other patients with this disorder, failed to demonstrate significant levels of alpha-ketoadipic acid in urine. Other known causes of alpha-aminoadipic aciduria were eliminated by showing that levels of lysine, saccharopine and pipecolic acid in plasma and urine were normal and that the activity of glutaryl-CoA dehydrogenase was also normal. Loading with L-lysine and L-tryptophan both increased the concentration of alpha-aminoadipic acid in blood and urine compatible with the primary deficiency of alpha-ketoadipate dehydrogenase, in spite of the absence of alpha-ketoadipic aciduria. Dietary restriction of lysine and administration of vitamins B1 and B6 were unsuccessful in correcting the biochemical abnormality.
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PMID:Biochemical and clinical studies of a new case of alpha-aminoadipic aciduria. 11 47

Thirteen male newborns of a family spanning five generations revealed a syndrome consisting in elevated birth weight and length, a disproportionately large head with coarse, distinctive facies, short neck, slight obesity, and broad, short hands and feet. The affected who reached adulthood attained heights of about 2 m; their unusual facial and general appearance and the clumsiness of all their motions, remarkable during infancy and childhood, had become somewhat less conspicuous. In all but one affected individual, intellectual development was normal. In two index cases neither clinical nor laboratory evaluations revealed a basic defect. X-linked recessive inheritance is most probable.
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PMID:A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome? 649 8

A group of 59 obese children ages 6-12 years were interviewed for current medical diagnoses (e.g., Attention Deficit Hyperactivity Disorder- ADHD, and clumsiness) and later were examined posturographically for balance and stability. General stability of all the obese children deviated significantly from norms. 32.2% of the obese children had a pattern of balance that could indicate orthopedic problems. Obese children with ADHD or perceived clumsiness had significantly worse balance and postural performance compared to other obese children. Balance and posture among obese children without suspicion of problems were similar to non-obese controls. In conclusion, obese children with associated disorders (such as ADHD and perceived clumsiness) manifested disturbance in balance control. Thus, physical activity interventions for these children should include safety measures to decrease the chances of falling and subsequent injury.
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PMID:Posturography characteristics of obese children with and without associated disorders. 2403 31

Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive defect, mostly occurs in children born from consanguineous marriages. The major features of this syndrome are cone-rod dystrophy, polydactyly, obesity, learning disabilities, hypogonadism in males, renal anomalies, nystagmus, speech disorders, developmental delay, polyuria/polydipsia, ataxia, and poor coordination/clumsiness. In this report, we present a case of a 19-year-old man with pain and swelling of the left ankle and knee joints because of which he could not walk, with an onset of loose stools since a week. He presented with multiple non-itchy hyperpigmented macules on his face and back, polydactyly in his left foot, central obesity, proteinuria, macrocytic anemia, low intelligence quotient, reduced power in the left lower limb, reduced plantar reflexes, nystagmus, pigmented black lesions in the temporal retina on fundoscopy, a micropenis, absent pubic and axillary hair, and a small scrotum containing testes. The patient was diagnosed with LMBBS.
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PMID:Laurence-Moon-Bardet-Biedl Syndrome: A Case Report. 3169 11