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

A boy, aged 7 months, of consanguineous parents presented with an acute onset of vomiting, fever, nonketotic hypoglycemia and acidosis and died from cardiac arrest after ventricular fibrillation. He had hepatomegaly and echocardiographically a non-obstructive cardiomyopathy. Autopsy was not allowed. After birth the child had suffered from a severe respiratory distress syndrome, transient metabolic acidosis and had a sweaty feet odour. Later on, development was retarded with a severe muscular hypotonia. Post mortem, numerous unusual organic acids were found in high concentrations in urine, e.g. dicarbonic acids, 2-hydroxyisobutyric, isovaleric, 3-hydroxyisovaleric acid, N-acyl glycines, isovalerylglutamic acid and sarcosine. This pattern indicated deficiencies of several acyl-Co A dehydrogenases in the metabolism of leucine, isoleucine, valine, lysine, short-chain fatty acids and sarcosine. This could be confirmed using cultured skin fibroblasts which were shown to degrade the corresponding labeled substrates insufficiently to 14CO2. It is assumed that the functional multiple acyl-Co A dehydrogenation deficiency is caused by a deficiency of a common link in the electron transfer system of these dehydrogenases which is inherited autosomal recessively in this family. Among the 12 patients reported, 7 died within the first 5 days of age.
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PMID:Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide. 686 97

We describe a patient with impairment of mitochondrial fatty acid P-oxidation. A Japanese baby boy was delivered in the 38th week of gestation by emergency cesarean section due to fetal asphyxia. His birth weight was 1,985 g (<10th percentile), length 44.8 cm (<10th percentile), and head circumference 31.0 cm (10th percentile). His Apgar scores were 3 and 5 at 1 min and 5 min, respectively. Blood glucose was 12 mg/dl at 1 hour after birth, requiring glucose administration. On day 1 his serum CK was 20,780 IU/l, which was thought to be due to asphyxia. His serum CK levels gradually began to decrease. At 3 months of age, he sucked poorly, had poor body weight gain, and muscle hypotonia was observed. On day 117 his general condition was impaired, and marked hepatomegaly was observed. The blood glucose level was 43 mg/dl. The patient's urine was negative for ketone bodies. His serum triglyceride level was 3,670 mg/dl. Abdominal CT scan revealed a fatty liver. Serum levels of acyl carnitine from very-long chain fatty acid increased. On day 118 he died due to ventricular fibrillation. On necropsy, massive lipid deposition was observed in the liver, cardiac muscle, kidney, skeletal muscle, and intestinal mucosa. The ratio of very-long chain acyl-CoA dehydrogenase (VLCAD) activity for C16/C8 fatty acid was 0.50 (normal control 1.29), suggesting abnormal VLCAD. He was diagnosed as having impairment of mitochondrial fatty acid beta-oxidation, presumably due to the VLCAD deficiency.
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PMID:A case of impairment of mitochondrial fatty acid beta-oxidation. 1212 6

Calcium channel inhibitors have been extensively used to treat arterial hypertension, ischaemic heart disease and supraventricular rhythm irregularities. The poisonings by that category of drugs are extremely dangerous, particularly when accompanied by intoxication with other drugs affecting the circulatory function. This paper reports 3 cases of poisonings with calcium channel inhibitors (verapamil and diltiazem) in combination with angiotensin convertase inhibitors and nonselective beta-adrenolytics. Circulatory insufficiency and cardiac rhythm abnormalities were noted in all reported cases, in one in the form of ventricular bigeminy and two episodes of ventricular fibrillation, while in the two other cases in the form of 1 degree atrioventricular block. The persisting hypotonia combined with heart rhythm disturbances could not be prevented by the typical conservative treatment involving intravenous administration of infusion fluids, calcium formulations, catecholamines and atropin. The application of 4-amino-pyridine (Pymadin) caused that arterial tension and heart rate were higher, and the heart rhythm disturbances disappeared. The reported cases suggest a beneficial effect of 4-aminopyridine used to treat cases of poisonings by calcium channel inhibitors; however, up to the present time, no detailed procedures have been determined for 4-aminopyridine administration in cases like those reported above. 4-aminopyridine has not been included in the list of the antidotes approved by the WHO and, therefore, broader tests and more clinical observations are required to confirm its therapeutic value.
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PMID:[The application of 4-aminopyridine in calcium channel inhibitors acute poisoning]. 1772 89

A ten-month-old girl was admitted to hospital with respiratory and gastrointestinal symptoms. Her condition deteriorated the following day, and she presented with symptoms of inspiratory stridor, facial palsy and ventricular fibrillation. She was resuscitated and intubated, and a normal spinal puncture was performed. Further investigation revealed areflexia, general hypotonia and reduced ejection fraction. Neurophysiological investigation showed long F-response, and renewed cerebrospinal fluid testing showed albuminocytologic dissociation, both typical signs of acute inflammatory demyelinating polyneuropathy (AIDP). Antitoxin was administered to the baby on suspicion of botulism, but immunological and microbiological testing ruled out infectious aetiology. She showed rapid improvement after i.v. immunoglobulin therapy, and was completely restituted/recovered 6 months after the incident.
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PMID:[Baby with respiratory problems and cardiac arrest]. 2235 39