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)

Glutaric acidemia type II is associated with neonatal hypoketotic hypoglycemia, metabolic acidosis, profound hypotonia, progressive cardiomyopathy, and early death. Deficiency of either electron transfer flavoprotein or electron transport flavoprotein:ubiquinone oxidoreductase leads to intramitochondrial accumulation of metabolites of compounds oxidized by enzymes that transfer electrons to flavoprotein. No detailed results of antemortem neuroimaging or magnetic resonance spectroscopy have been described previously. We investigated a patient with typical neonatal onset glutaric acidemia type II without obvious dysmorphogenesis or renal malformations. Cranial tomographic scan revealed hypoplastic temporal lobes and marked widening of the sylvian fissures ("bat-wing" appearance). Cranial magnetic resonance imaging documented underdeveloped frontal and temporal lobes with delayed myelination and hypoplasia of the corpus callosum. 31P-Magnetic resonance spectroscopy of muscle was grossly abnormal with a very low energy state consistent with mitochondrial dysfunction. 1H-Magnetic resonance spectroscopy of brain revealed elevated intracerebral lactate concentration and abnormally high choline/creatine ratio suggestive of dysmyelination. These findings constitute the first in vivo evidence of a developmental encephalomyopathy in glutaric acidemia type II.
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PMID:Glutaric acidemia type II: neuroimaging and spectroscopy evidence for developmental encephalomyopathy. 754 9

In a 4.5-month-old boy presenting with marked muscular hypotonia in the neonatal period, hepatomegaly, cardiac hypertrophy, recurrent hypoglycemia, metabolic acidosis, and secondary carnitine deficiency, there was a considerable urinary excretion of 3-methylglutaconic and 3-methylglutaric acid. Estimation of 3-methylglutaconyl-CoA hydratase, 3-hydroxy-3-methylglutaryl-CoA lyase and initial enzymatic steps of cholesterol biosynthesis in cultured fibroblasts and in different tissues postmortem revealed no enzyme deficiency. Analyses of the respiratory chain in postmortem tissues demonstrated severe impairment of complex I (NADH ubiquinone oxidoreductase) and complex IV (cytochrome c oxidase) activities in skeletal muscle and reduced complex IV activity in heart.
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PMID:Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. 769 3

A 21-month-old infant developed coma with hypotonia during a viral infection. Acyl CoA dehydrogenase deficiency was diagnosed on the basis of results of the chromatographic study of organic acids performed on a urine specimen collected during the acute episode. However, other disorders of mitochondrial and fatty acid oxygenation can generate similar symptoms. Emphasis is put on the need for collecting urine specimens in patients who develop alterations in consciousness and hypoglycemia without ketonuria during prolonged fasting or repeated vomiting due to a viral infection. Urine chromatography can suggest which enzyme is defective, although the diagnosis should always be confirmed by a study of fatty acid oxygenation in lymphocytes or fibroblasts.
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PMID:[Deficiency in medium chain acyl coA dehydrogenase manifested as febrile coma]. 834 83

The proband, a French-Canadian white boy, presented with congenital sensory polyneuropathy, moderate to severe sensorineural hearing loss, infantile cataracts, nystagmus, esotropia, unusual facies, hypotonia, bilateral congenital hip dysplasia, delayed ossification of the femoral heads, scoliosis, short stature secondary to growth hormone deficiency, and developmental delay. His parents are consanguineous. His maternal first cousin, a 16-year-old girl, has congenital sensory polyneuropathy, infantile cataracts, unusual facies, scoliosis, short stature secondary to growth hormone deficiency, late-childhood-onset arthritis, and hypoglycemia. Reportedly, she has no hearing difficulties and has normal intelligence. Her parents are third cousins. These children appear to have a distinct variant of hereditary sensory and autonomic neuropathy with infantile cataracts, unusual facies, skeletal dysplasia, short stature secondary to growth hormone deficiency, and other features, with probable autosomal recessive inheritance.
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PMID:Unique hereditary sensory and autonomic neuropathy with growth hormone deficiency. 840 71

431 newborns of diabetic mothers (NDM) were studied between the years 1980 and 1990. They were divided into two groups: a first group of 227 patients born from mother with gestational diabetes mellitus; a second group of 204 patients born from mother with pregestational diabetes mellitus. The first and the second group were subdivided into two subgroups: the A, referring to the period 1980-85, and the B, referring to the period 1986-90. Subgroups B were characterized by a better metabolic control of pregnancies. Our protocol consisted of anamnestic study, clinical, metabolic, instrumental examinations and clinical follow-up for a period ranging from 1 to 10 years. The study of our data suggests that embryo-feto-neonatal mortality doesn't show significantly difference between the first and the second group and between subgroups A and B. The percentage of preterm infants was significantly more elevated in the second group, the percentage of full-term newborns was significantly higher in the first group. The incidence of cesarean sections was significantly higher in subgroups B. Mean birthweight was more elevated in the first group and the incidence of macrosomia was higher in subgroups A. The incidence of asphyxia, hypotonia, seizures, transient cardiomegaly, transient hypoglycaemia and hypocalcemia, was higher in subgroups A, without significant difference between the first and the second group. Congenital anomalies were heterogeneous and there were no significant difference between the first and the second group. Only the incidence of congenital cardiopathies was significantly more elevated in the second group. At follow-up neurologic sequelae were mainly characterized by behavioural anomalies.
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PMID:[The newborn infant of the diabetic mother: the clinical findings in 431 subjects]. 841 73

An infant with feeding difficulties, hypotonia, lactic acidemia, and severe hypoketotic hypoglycemia died at the age of 7 months of liver disease. Electron microscopy revealed abnormal mitochondria. Biochemical studies of mitochondrial enzymes in liver showed a decreased activity of complexes I, III, and IV. Mitochondrial DNA (mtDNA) content was reduced in liver 7% of the mean value in control subjects) and in muscle (50%). In kidney, brain, and heart, the mtDNA content was normal. The liver-specific mtDNA depletion syndrome in this patient manifested itself with features of both a respiratory chain defect and a mitochondrial fatty acid oxidation defect. Syndromes involving depletion of mtDNA can be diagnosed only when the activity of the respiratory chain enzymes and the content of mtDNA are investigated in the most affected tissues.
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PMID:Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia. 862 28

A 6-month-old female infant with hypotonia and keto and lactic acidosis was diagnosed with lipoamide dehydrogenase (E3) deficiency. This enzyme is a component of the pyruvate, alpha-ketoglutarate, and branched chain alpha-ketoacid dehydrogenase complexes. At the time of diagnosis her plasma contained elevated branched chain amino acids, alanine, alloisoleucine, ketones, pyruvate, and lactate, and her urine contained elevated branched chain ketoacids and lactate. By neuroimaging she was found to have Leigh subacute necrotizing encephalomyelopathy. Modest branched-chain amino acid restriction led to the disappearance of alloisoleucine and normalization of her branched chain amino acid values, while institution of a high fat diet precipitated hypoglycemia and acidosis. A trial of lipoic acid led to a transient modest improvement in her lactic acidemia. Use of dichloroacetate to activate the pyruvate dehydrogenase complex led to a significant decline in lactate levels, but this was also transient. The patient had significant growth failure despite a high carbohydrate, high calorie diet, yet remained clinically well until 28 months of age when she developed acute acidosis and brainstem dysfunction and died.
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PMID:Leigh disease with deficiency of lipoamide dehydrogenase: treatment failure with dichloroacetate. 865 22

A female infant is described with hypoglycaemia, hypotonia, obesity of the trunk and thighs, and mild dysmorphic features. Growth parameters were consistently above the 90th centile. Chromosome analysis showed her to have a derived chromosome 9 inherited from a maternal t(3;9)(p25;p23) by adjacent I segregation. She had features in common with both the dup(3p) and del(9p) syndromes. There are few reports of this chromosome rearrangement and the features are milder than expected for the degree of imbalance, complicated in males by sex reversal. The repeated reports of macrosomia may suggest an overgrowth syndrome.
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PMID:A mild phenotype associated with der(9)t(3;9) (p25;p23). 881 57

Long-chain 3-hydroxyacyl-coenzyme A (CoA) dehydrogenase is one of three enzyme activities of the mitochondrial trifunctional protein. We report the clinical findings of 13 patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. At presentation the patients had had hypoglycemia, cardiomyopathy, muscle hypotonia, and hepatomegaly during the first 2 years of life. Seven patients had recurrent metabolic crises, and six patients had a steadily progressive course. Two patients had cholestatic liver disease, which is uncommon in beta-oxidation defects. One patient had peripheral neuropathy, and six patients had retinopathy with focal pigmentary aggregations or retinal hypopigmentation. All patients were homozygous for the common mutation G1528C. However, the enoyl-CoA hydratase and 3-ketoacyl-CoA thiolase activities of the mitochondrial trifunctional protein were variably decreased in skin fibroblasts. Dicarboxylic aciduria was detected in 9 of 10 patients, and most patients had lactic acidosis, increased serum creatine kinase activities, and low serum carnitine concentration. Neuroradiologically there was bilateral periventricular or focal cortical lesions in three patients, and brain atrophy in one. Only one patient, who has had dietary treatment for 9 years, is alive at the age of 14 years; all others died before they were 2 years of age. Recognition of the clinical features of long-chain 3-hydroxyacyl-CoA deficiency is important for the early institution of dietary management, which may alter the otherwise invariably poor prognosis.
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PMID:Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients. 942 8

The case of a woman of 27 affected by the Prader-Willi syndrome who underwent general anaesthesia for dental surgery is reported. The patient presented severe mental retardation, small stature, moderate muscular hypotonia, hyperphagia, obesity, and diabetes mellitus. Premedication consisted of diazepam and atropine; anaesthesia was induced with propofol and maintained with propofol, fentanyl and N2O; muscle paralysis was obtained with atracurium. A small glottis was observed at laryngoscopy so that a 6 mm cuffed tube was inserted. Surgery lasted 75 minutes; the patient recovered promptly a few minutes following the end of propofol infusion; no postoperative complication was recorded. As hypoglycemia can occur during and after surgery in the Prader-Willi syndrome, plasma samples for glucose, NEFA, insulin, cortisol, and growth hormone (GH) were collected prior to the induction of anaesthesia (A), 20 minutes after starting surgery (B), at the end of surgery (C), and 3 hours later (D). In spite of the infusion of glucose, hyperglycemia was observed just in C and D samples (A:77; B:88; C:245; D:279 mg/dl). Stable NEFA values, within the normal range, were observed (A:77; B:88; C:245; D:279 mg/dl) suggesting poor or absent lipolysis. Insulin decreased progressively during surgery (A:10.5; B:8.8; C:5.4; D:7.0 mU/L). Cortisol peaked in B (A:9.5; B:20.9; C:13.4; D:4.8 micrograms/dl), suggesting normal hypothalamic reactivity to the surgical stimulus. Finally very low GH levels were observed (A:0.04; B:0.07; C:0.06; D:0.09 ng/ml) suggesting GH deficiency, which had possibly affected the size of patient's glottis. Our data support the hypothesis that hypoglycemia in the Prader-Willi syndrome originates from inadequate lipolysis during starvation.
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PMID:[General anesthesia in Prader-Willi syndrome]. 910 80


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