Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Congenital methylmalonic aciduria (MMA) is a metabolic disorder inherited by an autosomal recessive trait. The metabolic block is located in the catabolic pathway of propionyl-CoA to succinyl-CoA. Biochemically, four enzymatic defects have been recognized, i.e.: 1. Methylmalonyl-CoA racemase. 2. Methylmalonyl-CoA mutase apoenzyme. 3. Synthesis of desoxyadenosyl-cobalamine. 4. Disturbance at an earlier level of cobalamine metabolism which causes defective synthesis of both vitamin B12-coenzymes. These four enzymatic defects express themselves in three ways: non-vitamin B12-dependent MMA (defects 1 and 2); vitamin B12-dependent MMA (defect 3); MMA associated with homocystinuria (defect 4). The various forms of MMA cannot be distinguished clinically from one another. The disorder manifests itself during the first few days to weeks of life. Principal symptoms and signs are: anorexia, vomiting, muscular hypotonia and metabolic acidosis. The diagnosis is established by determination of methylmalonic acid in plasma, cerebrospinal fluid and urine, as well as by assay of enzyme activities in leukocytes, liver tissue or cultured fibroblasts (from biopsied skin). A prenatal diagnosis is feasible by the examination of cultured amnion cells, amniotic fluid and maternal urine. Therapy of non vitamin B12-dependent MMA calls for reduction of protein intake, particularly that of precursors of methylmalonic acid, such as methionine, threonine, isoleucine and valine. The treatment of vitamin B12-dependent forms is accomplished by i.m. injection of high doses of vitamin B12. No definite statement can be made as yet with regard to long-term prognosis and normalcy of mental development in treated children.
 ...
PMID:[Methylmalonic aciduria. Classification, diagnosis and therapy (author's transl)]. 31 93

Blood flow disturbances in the gastrointestinal tract can lead to serious illness. They can be acute or chronic, their cause may be arterial or venous occlusion or hypotonia. Lesions of the gastrointestinal tract caused by ischemia depend on localisation, acuteness and degree of the blood flow disturbance. They may reach from focal and segmental ischemic lesions to extensive necroses of the entire intestinal tubes. The most serious ischemic disease is the embolic and thrombotic occlusion of the arteria mesenterica superior due to previous arterosclerotic damage. Infarction of a large part of the intestines and peritonitis can be the consequence. These patients' only chance of survival is early diagnosis--as a rule exclusively via angiography--and immediate surgery. Chronic occlusion of the arteria mesenterica superior leads to angina abdominalis which mainly occurs after food intake and can last for hours. The reason may also be a general arteriosclerosis. Men are affected more frequently and at a younger age than women. As a consequence of lowered intestinal blood flow these patients suffer from malabsorption and heavy weight loss. Conservative therapy is not effective. These patients, too, will have to be treated surgically after previous angiography. Vascular disease with decreased blood flow as its consequence can be found in a number of inflammatory diseases, in malign hypertensian, in collagen disease and in other more rare diseases as pseudoxanthoma elasticum or Ehlers-Danlos-syndrome. In the case of ischemic colitis arterial and more rarely venous occlusions cause decreased blood flow in the big bowel. A frequent consequence is colitis in the left colon which is characterized by acuteness, pain in the left side of the abdomen and by heavy rectal bleeding. Diagnosis is established by means of endoscopy, barium enema and angiography. Primarily therapy of ischemic colitis is of the conservative type. In severe cases with gangrene and peritonitis the colon has to be resected.
 ...
PMID:[Disorders of the blood circulation in the gastrointestinal tract]. 32 26

Long term results of fistulating operations with Walser's punch are reported. A comparison between two methods without and with fixed scleral flap shows that the first method was more often associated with hypotonia, while the latter is more often followed by unsatisfactory pressure regulation necessitating additional drug therapy. That is why a third method of operation was developed. Here the scleral flap is shortened by scissors and not resutured to the sclera. The first clinical results indicate that the method makes use of the advantages of a scleral flap with less risk of an insufficient pressure regulation.
 ...
PMID:[Fistulating operations with Walser's punch Modifications without scleral flap and with fixed or loose scleral flap (author's transl)]. 33 Sep 29

Authors present a case of infantile cortical hyperostosis with several clinical and radiologic unusual aspects they principally stand out the observation of hypotonia and widely split sutures, possibly never published before.
 ...
PMID:[Infantile cortical hyperostosis. A case report (author's transl)]. 34 74

Infant botulism is a unique neuromuscular disease affecting infants less than six months old. It is the result of intraintestinal toxin production by C. botulinum (toxi-infection). Characteristic symptoms include constipation, lethargy, and decreased feeding. Physical examination often reveals generalized hypotonia with cranial nerve impairment. Recovery is dependent on supportive care in an intensive care setting. The relationship of this disease to the sudden infant death syndrome requires further study.
 ...
PMID:Infant botulism. 37 78

The pharmacology and pharmacokinetics of clonidine and the symptoms and treatment of acute clinidine overdosage are reviewed. Clonidine, a relatively safe and effective antihypertensive agent when used at therapeutic dosages, reduces blood pressure through a centrally mediated reduction in vasomotor tone. The primary symptoms of clonidine overdosage are central nervous system depression, bradycardia, hypotension, miosis, hypotonia, respiratory depression and possibly seizures. Gastric lavage followed by administration of activated charcoal is used to decrease absorption following acute oral ingestion. Intravenous fluid therapy and dopamine infusion are recommended for severe hypotension, and atropine sulfate is used to manage persistent bradycardia. Treatment of hypotension with alpha-adrenergic blocking agents (e.g., tolazoline) is not recommended unless patients fail to respond to dopamine infusion and administration of i.v. fluids.
 ...
PMID:Clonidine overdose: a review. 38 42

Three children in a West African family had Gaucher's disease of juvenile onset (Type 3), and all showed an identical neurological disorder. The diagnosis was substantiated by histochemical demonstration of Gaucher cells in bone marrow, liver, and spleen, the finding of an excess of glucosyl ceramides in a liver extract, and a deficient activity of the enzyme beta-glucosidase in cultured skin fibroblasts. The neurological picture was characterised by myoclonic epilepsy, muscle wasting, hypotonia, pyramidal signs, some intellectual deterioration, and a striking disturbance of eye movements. The latter appears to result from specific involvement of the supranuclear pathways subserving lateral gaze. The distinctive features of this clinical syndrome are emphasised.
 ...
PMID:Juvenile Gaucher's disease with horizontal gaze palsy in three siblings. 40 64

A patient with congenital lactic acidosis, muscular hypotonia and severe ataxia is reported. The aetiology of his disease was found to be a deficiency of pyruvate dehydrogenase (E.C. 4.1.1.1.). Thiamine treatment (1.8 g/day) was successful in correcting biochemical and clinical symptoms. The mechanism of its action is probably based on activation of pyruvate dehydrogenase through interference in the physiologic regulation.
 ...
PMID:Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency. 41 46

A patient is described with congenital hypotonia, lax joints, friable skin, hemorrhagic scars, high-arched palate, and borderline microcornea. Acid hydrolyzed whole skin collagen had a reduced hydroxylysine content of 0.5 residues per 1,000 as compared to 5.1 +/- 0.7 in control skin. Collagen lysyl hydroxylase in dialyzed subcellular fractions of cultured skin fibroblasts required L-ascorbate as a principal cofactor. Activity of this enzyme in cultured skin fibroblasts derived from this patient, his father, and mother were 17%, 66%, and 39% of control values, respectively. Collagen prolyl hydroxylase activity was normal. Pharmacologic amounts of oral vitamin C (4 gm/day) produced an increase and withdrawal resulted in abrupt diminution of urinary excretion of hydroxylysine. Over a two-year period the patient's wound healing and muscle strength improved and corneal diameter increased. Hydroxylysine content of the skin did not increase.
 ...
PMID:Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response. 41 88

The first case of trisomy of probable 12p mosaicism originated de novo is presented. Comparison of the clinical findings of this patient with those of previously described cases of 12p trisomy derived from translocated chromosomes indicates that the symptoms of 12p trisomy are: (1) normal birth weight and physical development, (2) severe psychomotor retardation and generalized hypotonia, (3) peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of feet.
 ...
PMID:Trisomy 12p syndrome: de novo occurrence of mosaic trisomy 12p in a mentally retarded boy. 42 96


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>