21/64. Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome.Two brothers presented with olivopontocerebellar atrophy of neonatal onset. The clinical features (failure to thrive, hypotonia, liver disease, effusions, and visual inattention) were similar to those of the four cases already reported, as were the necropsy findings of olivopontocerebellar atrophy, hepatic steatosis and fibrosis, and microcystic renal changes. The clinical similarities between this and the disialotransferrin developmental deficiency syndrome were noted. The characteristic abnormality of serum transferrin found in the latter syndrome was also found in the two cases reported here. We suggest that both syndromes are caused by the same, or related, defects in glycoprotein metabolism.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
22/64. Mannosidosis: pathology of the nervous system.In a girl with mannosidosis, who died at 3 1/2 years of age, histopathological and ultrastructural changes in the nervous system are described. A widespread neuronal storage evidenced by ballooning of the neuronal perikarya is the salient histological feature and the occurrence of electron-lucent storage vacuoloes in neurons, astrocytes, endothelial cells and pericytes is the most striking ultrastructural feature of mannosidosis in the nervous system. By virtue of the deficiency of acidic alpha-mannosidases A and B, the accumulation of mannose-containing oligosaccharides in tissues and the occurrence of storage vacuoles in various cells, mannoisidosis is similar to various neuronal storage diseases associated with lysosomal enzyme deficiencies. In mannosidosis, the storage vacuoles in the neural and visceral tissues are alike with little variation in details and contain chiefly loosely dispersed, finely reticulogranular material. The storage vacuoles in neurons in mannosidosis are, therefore, distinct from those in neurons in other lysosomal storage disease such as Pompe's disease, various lipidoses and mucopolysaccharidoses. However, they resemble closely the storage vacuoles in neurons in fucosidosis and those in liver cells in various mucopolysaccharidoses.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
23/64. Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form.We describe the clinical findings over the first 18 years of a patient with a novel phenotype for galactosialidosis, the storage disease produced by the combined deficiency of beta-galactosidase and neuraminidase. Clinical findings in the first few months included somewhat unusual appearance and hepatosplenomegaly. Dysostosis multiplex was evident by age 2 1/2 years. Mitral and aortic valvular disease appeared over the next few years and cardiac disease has become the most important clinical problem. foam cells were present in the bone marrow, and vacuolated lymphocytes were present in the peripheral blood smear. The patient had no neurological symptoms, cherry red spots, or intellectual deterioration during the first 18 years. Evidence presented elsewhere indicates that the basic defect in this late infantile form of galactosialidosis (as is thought to be true for the other forms of galactosialidosis) is a reduced amount of the 32 kDa phosphoglycoprotein which associates with beta-galactosidase and alpha-neuraminidase in lysosomes.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
24/64. D( )-glyceric aciduria: etiology and clinical consequences.A family comprising mother, father, and five children is described. Four of the children were found to excrete massive amounts of D( )-glyceric acid in their urine. This was verified by gas chromatography-mass spectrometry and the configuration determined by capillary gas chromatography of O-acetylated menthyl esters. The excretion ranged from 10.8 to 19.9 mmol/24 h. The remaining child and the parents showed no evidence of this unusual metabolite. The virtual absence of clinical manifestations in this family was particularly interesting. Only two of the children showed any clinical abnormality and this was limited to mild microcephaly and speech delay; the other two children found to excrete large amounts of D( )-glycerate were healthy and developmentally normal at 7 y and 9 y of age. There was a marked increase in the excretion rate of D( )-glycerate in response to both oral fructose and serine loading. These results are consistent with a deficiency of D( )-glycerate kinase and indicate the potentially benign nature of this disorder.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
25/64. A new variant of glucosephosphate isomerase deficiency (GPI-Utrecht).A new case of glucosephosphate isomerase deficiency is described in a Dutch family. The activity of the enzyme was decreased to 20-25% of the normal value. Characterization of the defect enzyme showed a pronounced thermolability. heating of the enzyme at 45 degrees C showed a loss of activity of 90% after one hour. The pH-optimum and the electrophoretic migration were normal. The Km-value for F-6-P, the Ki for the competitive inhibitors 2,3-DPG and 6-PG were in the normal range. The variant described here differs from all known variants. Therefore we propose to give to this new variant the name of GPI-Utrecht.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
26/64. glycerol-3-phosphate excretion in fructose-1,6-diphosphatase deficiency.A patient aged 23 months with fructose-1,6-diphosphatase deficiency is reported. This infant demonstrated an increased urine excretion of glycerol-3-phosphate during episodes of hypoglycaemia. The excretion of this compound has not previously been described in this disease or in those disorders associated with a deficiency in one of the other three gluconeogenic enzymes associated with hypoglycaemia. Its presence in the urine from patients may be useful in diagnosis.- - - - - - - - - - ranking = 1.2keywords = deficiency (Clic here for more details about this article) |
27/64. Complex carbohydrate intolerance: diagnostic pitfalls and approach to management.Complex carbohydrate intolerance occurred in three of 105 patients with protracted diarrhea of infancy. Nosocomial gastroenteritis complicated a primary disorder of carbohydrate absorption (primary glucose galactose malabsorption, two; primary sucrase isomaltase deficiency, one) in all patients. Their course was characterized by protracted diarrhea, variable degrees of villus atrophy on intestinal biopsy tissue, and negative caloric balance requiring intravenous alimentation for periods varying from 6 to 16 weeks. Dietary management required rigid exclusion of all offending carbohydrates from the diet. Delay in the diagnosis of primary carbohydrate intolerance varied from 2 weeks to 6 months. Complex carbohydrate intolerance may be more common than has been reported, and should be considered in all infants with protracted diarrhea of infancy when there is persistent carbohydrate intolerance.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
28/64. D-glyceric acidemia: an inborn error associated with fructose metabolism.A mentally retarded girl with epileptic seizures is described. Urinary organic acid screening revealed a massive excretion of glyceric acid, a normally barely detectable metabolite. Hyperglycinemia was not observed. Capillary gas chromatography of the O-acetylated (-)-menthyl ester of urinary glyceric acid showed the substance to have the D-configuration. The urinary D-glycerate excretion remained unaltered after an oral load with 200 mg/kg L-serine, but oral loading with fructose (1 g/kg) or dihydroxyacetone (1 g/kg) caused a sharp increase of the D-glycerate excretion. Treatment with a diet moderately restricted in fructose led to some clinical improvement as judged by subjective criteria. The metabolic lesion is thought to be located at some step of the fructose catabolic pathway, possibly at the level of hepatic triokinase deficiency.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
29/64. Glutamyl ribose-5-phosphate storage disease: nephrotic syndrome and cerebral atrophy.Storage of glutamyl ribose-5-phosphate was identified at autopsy in the brain and kidney of an 8-year-old male who had presented clinically with progressive renal failure and neurological deterioration. In a renal biopsy during life, glomeruli were focally sclerotic and contained foam cells. By electron microscopy, lysosomal accumulation was present in renal tubular and glomerular epithelial cells, hepatic kupffer cells, and conjunctival connective tissue cells. Ganglion cells in the brain stem had swollen, PAS-positive cytoplasm with central chromatolysis. The cerebral cortex was atrophic and there was loss of purkinje cells in the cerebellum. The identification of storage was based on biochemical isolation of the compound from the tissues at autopsy. The enzyme deficiency responsible for the storage has not yet been identified.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
30/64. Triosephosphate isomerase deficiency: 2 new cases.2 new cases of triosephosphate isomerase (TPI) deficiency associated with severe haemolytic anaemia in 2 unrelated Italian families are described. Only 1 case was extensively investigated. TPI deficiency was detectable in erythrocytes, leucocytes, platelets and plasma. The mutant enzyme showed normal Km for GAP and increased Km for DHAP, with an higher than normal equilibrium constant, decreased thermostability, and abnormal electrophoretic pattern due to the lack of the fastest moving component. The immunological characterization revealed a lower than normal inactivation by specific antiserum, while the double immunodiffusion pattern and the precipitin curve were normal. Lymphocyte, granulocyte and platelet functions were impaired.- - - - - - - - - - ranking = 1.2keywords = deficiency (Clic here for more details about this article) |
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