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 case of neonatal Myotonic Dystrophy (MD) is presented. A 35 week old 3570 g baby was born to a mother affected by MD and pregnancy-induced unstable diabetes. Soon after birth, he developed apnea, severe hypoglycemia, hypocalcemia, hypotonia and mild respiratory distress. His clinical course improved during the following days, but persistent episodes of desaturation and/or cyanosis did not subside; hypotonia was mild. A polysomnographic recording showed mixed central and obstructive apnea. DNA testing showed trinucleotide repeat expansion mutations diagnostic of MD. The baby was discharged with home-sleep monitoring and breast-feeding. Recurrent apnea/bradycardia was the main clinical feature in this case of congenital MD, with increased risk of an acute life-threatening event.
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PMID:Sleep apnea and respiratory dysfunction in congenital myotonic dystrophy. 1145 9

Congenital disorders of glycosylation (CDG) are caused by defects in protein N-glycosylation. These inherited disorders impact multiple organ systems, including the liver, its glycoprotein products, and the gastrointestinal system. Many patients have hypotonia, psychomotor retardation, developmental delay, and failure to thrive. Limited awareness of CDG and the diverse biological functions of glycosylation contribute to underdiagnosis of these disorders. Pediatric hepatologists and gastroenterologists are likely to encounter CDG patients early on in their workups. This review will discuss the clinical pictures, biochemistry, molecular defects, diagnosis, and, for one type, an effective treatment. The broad and diverse CDG presentations within and between the various types indicate that it should be considered in any case of unexplained developmental delay, hepatopathology, especially hepatic fibrosis and/or steatosis, protein-losing enteropathy, coagulopathy, hypoglycemia, and failure to thrive.
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PMID:Congenital disorders of glycosylation and the pediatric liver. 1174 38

Two disorders of fatty acid metabolism were described in 1973. Since then, at least 22 different inborn errors of metabolism affecting beta-oxidation in skeletal muscle and other tissues have been identified. Neurological findings are prominent in many of these, including hypotonia, myopathy (often with lipid storage), and peripheral neuropathy. Recurrent rhabdomyolysis and hypoglycemia are frequent clinical problems. In many cases, a correct diagnosis will only be made if these disorders are specifically considered and appropriate tests are obtained, since screening tests which detect other inborn errors of metabolism are often normal in patients with beta-oxidation defects under many circumstances. Clinical symptoms, diagnostic testing, and issues of newborn screening for this important group of disorders are discussed.
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PMID:Defects of mitochondrial beta-oxidation: a growing group of disorders. 1180 95

A boy presented with lactic acidosis, hepatomegaly, hypoglycemia, generalised icterus, and muscle hypotonia in the first weeks of life. At the age of 2 months, neonatal giant cell hepatitis was diagnosed by light microscopy. Electron microscopy of the liver revealed an accumulation of abnormal mitochondria and steatosis. Skeletal muscle was normal on both light and electron microscopy. At the age of 5 months, the patient died of liver failure. Biochemical studies of the respiratory chain enzymes in muscle showed that cytochrome-c oxidase (complex IV) and succinate-cytochrome-c oxidoreductase (complex II + III) activities were (just) below the control range. When related to citrate synthase activity, however, complex IV and complex II + III activities were normal. Complex I activity was within the control range. The content of mitochondrial DNA (mtDNA) was severely reduced in the liver (17% to 18% of control values). Ultracytochemistry and immunocytochemistry of cytochrome-c oxidase demonstrated a mosaic pattern of normal and defective liver cells. In defective cells, a reduced amount of the mtDNA-encoded subunits II-III and the nuclear DNA-encoded subunits Vab was found. Cells of the biliary system were spared. Immunohistochemistry of mtDNA replication factors revealed normal expression of DNA polymerase gamma. The mitochondrial single-stranded binding protein (mtSSB) was absent in some abnormal hepatocytes, whereas the mitochondrial transcription factor A (mtTFA) was deficient in all abnormal hepatocytes. In conclusion, depletion of mtDNA may present as giant cell hepatitis. mtTFA and to a lesser degree mtSSB are reduced in mtDNA depletion of the liver and may, therefore, be of pathogenetic importance. The primary defect, however, is still unknown.
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PMID:Depletion of mitochondrial DNA in the liver of an infant with neonatal giant cell hepatitis. 1195 53

The purpose of this study was to review the use of lithium in pregnancy and its effects on the neonate. This was a case study and review of the published literature. Lithium is commonly used in the treatment of psychiatric disorders, specifically bipolar depression. Bipolar disorders that require treatment with lithium demand special consideration when the woman becomes pregnant. Reported neonatal problems with maternal lithium therapy include Ebstein's anomaly, poor respiratory effort and cyanosis, rhythm disturbances, nephrogenic diabetes insipidus, thyroid dysfunction, hypoglycemia, hypotonia and lethargy, hyperbilirubinemia, and large-for-gestational-age infants. Lithium can have adverse effects on the fetus and newborn infant, but data suggest normal behavioral patterns in childhood.
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PMID:Case report and review of the perinatal implications of maternal lithium use. 1211 21

Neonatal hyperinsulinemic hypoglycemia must be suddenly and appropriately diagnosed and treated to prevent any further neurological dysfunction and damage. Therefore, we report two cases of our observation. Case 1: birth asphyxia, episodes of hypoglycemia after delivery, hyperinsulinism and reduced IGFBP1 blood concentration. Clinical and laboratory pictures resolved progressively after 8 days of life, perfusions were stopped and the neonate began to suck breast milk. Case 2: negative familial and perinatal history. On the 3rd day of life he developed cyanosis, hypotonia, tremors and hypoglycemia. He was discharged with a diagnosis of cerebral injury and neonatal hypoglycemia. At 1 year of life the child showed progressive and heavy neurological damage. The RMN of the brain showed: enlarged ventricles and liquor spaces around the brain, particularly in the frontal region. Hyperinsulinism was diagnosed in our Clinic. He began pharmacological treatment with Diazoxide that permitted euglycemia. The ammonium was normal and excluded glutamate dehydrogenase deficiency (mutation of GLUD1 gene); Diazoxide responsivity excluded mutations of SUR1 and KIR6.3 genes. At 9 years of life he showed motor and language retardation. Newborns with perinatal history of asphyxia may develop transient hyperinsulinism with absent neurological consequences. Persistent hypoglycemic or epileptic-like episodes, in particular on waking up, after meals or during banal infections, must be studied to reveal hyperinsulinism.
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PMID:Neonatal hyperinsulinemic hypoglycemia. Two case reports. 1213 69

Malonyl-CoA decarboxylase (E.C.4.1.1.9) catalyzes the conversion of malonyl-CoA to acetyl-CoA. Although the metabolic role of this enzyme has not been fully defined, it has been reported that its deficiency is associated with mild mental retardation, seizures, hypotonia, cadiomyopathy, developmental delay, vomiting, hypoglycemia, metabolic acidosis, and malonic aciduria. Here, we isolated a cDNA clone for malonyl CoA decarboxylase from a rat brain cDNA library, expressed it in E. coli, and characterized its biochemical properties. The full-length cDNA contained a single open-reading frame that encoded 491 amino acid residues with a calculated molecular weight of 54, 762 Da. Its deduced amino acid sequence revealed a 65.6% identity to that from the goose uropigial gland. The sequence of the first 38 amino acids represents a putative mitochondrial targeting sequence, and the last 3 amino acid sequences (SKL) represent peroxisomal targeting ones. The expression of malonyl CoA decarboxylase was observed over a wide range of tissues as a single transcript of 2.0 kb in size. The recombinant protein that was expressed in E. coli was used to characterize the biochemical properties, which showed a typical Michaelis-Menten substrate saturation pattern. The Km and Vmax were calculated to be 68 microM and 42.6 micromol/min/mg, respectively.
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PMID:Rat malonyl-CoA decarboxylase; cloning, expression in E. coli and its biochemical characterization. 1229 32

Three infants with documented mitochondrial fatty acid oxidation disorders are described in this report. Case 1. Carnitine/acylcarnitine translocase deficiency. (CACT) (OMIM 212138) A two-day-old male developed sudden cardiac arrest 48 hours postpartum, with a previous history of early death (day 2) in siblings with a history of parental consanguinity; somnolence, inactivity, refusal to suck within 24 h, hepatomegaly, persistent hypoglycemia, hypocalcemia, hyperkalemia and severe metabolic acidosis prior to cardiac arrest. Dried blood spots by tandem mass spectrometry demonstrated 10 x elevation of palmitoylcarnitine, moderate elevation of oleylcarnitine, steroylcarnitine and myristoylcarnitine. Case 2. Medium chain acyl CoA dehydrogenase (MCAD) deficiency. (OMIM 212139) A six-week-old male infant, developed sudden cardiac arrest after contacting a viral illness, resuscitated successfully in the first episode, only to succumb during the second episode, 2 weeks apart. Plasma acylcarnitine via tandem mass spectrometry was reported normal; however, urine organic acids via gas liquid chromatography and mass spectrometry demonstrated characteristic metabolites consistent with MCADD. Case 3. Carnitine deficiency, systemic primary. (CDSP) (OMIM 212140) A one-year-old girl with progressive dyspnea since birth and a history of parental consanguinity. Severe dilated cardiomyopathy with episodes of cardiac decompensations, hepatomegaly, anemia, generalized hypotonia, but no hypoglycemia were demonstrated prior to cardiac arrest. Extremely low carnitine level noted in dried blood spots via tandem mass spectrometry.
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PMID:Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases. 1240 51

We describe two brothers born to consanguineous parents, who presented with hypotonia and hypoglycaemia in the neonatal period and later developed obesity and developmental delay. They had brachydactyly and similar facial features including a prominent forehead, low nasal bridge, midface hypoplasia, full lips, a small mouth, and small, low set ears with overfolded helices. Their sister had mild learning disabilities. No additional anomalies were found, and metabolic investigations including peroxisomal functions gave normal results. We suggest the patients have a hitherto unreported condition, with an autosomal or X-linked mode of inheritance.
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PMID:Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers. 1251 59

Classical galactosaemia (Mendelian Inheritance in Man, no 230400) is an autosomal recessive disorder of galactose metabolism caused by a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT). The GALT enzyme is responsible for the conversion of galactose-1-phosphate with UDP glucose to glucose-1-phosphate and UDP galactose. The gene encoding for GALT is located on chromosome 9p13. Patients present with hepatomegaly, liver failure, food intolerance, hypoglycaemia, muscle hypotonia, sepsis and cataract. Treatment involving the total restriction of lactose-containing foods is life-saving but many patients develop late complications such as problems of mental development, disorders of motor function, disorders of speech and hypergonadotrophic hypogonadism.
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PMID:[From gene to disease; galactosemia and galactose-1-phosphate uridyltransferase deficiency]. 1475 29


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