11/35. Postpartum "psychosis" in mild argininosuccinate synthetase deficiency.BACKGROUND: urea cycle disorders are relatively rare but well-established causes of postpartum coma and death. Such clinical presentations have been reported previously in ornithine transcarbamylase and carbamyl phosphate synthetase deficiencies. CASE: We describe a woman, without prior symptoms of metabolic disease, who presented with hyperammonemia and psychiatric symptoms in the postpartum period. Initial diagnoses included acute fatty liver of pregnancy and postpartum psychosis. She was later found to have argininosuccinate synthetase deficiency after further metabolic investigations. Rare heterozygous mutations in the argininosuccinate synthetase gene were identified. CONCLUSION: urea cycle disorders may present initially with postpartum psychiatric symptoms and may represent an underrecognized cause of "postpartum psychosis." We recommend obtaining metabolic studies in women with neurologic or severe psychiatric symptoms in the postpartum period.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
12/35. dihydropyrimidine dehydrogenase deficiency in an Indian population.BACKGROUND: Dihydropyrimidine dehydrogenase (DPD) deficiency is prevalent in 3-5% of the Caucasian population; however, the frequency of this pharmacogenetic syndrome in the Indian population and other racial and ethnic groups remains to be elucidated. patients AND methods: We describe an Indian patient who presented to clinic for the treatment of gastric adenocarcinoma with 5-flurouracil (5-FU) therapy who subsequently was diagnosed with DPD deficiency by using the peripheral blood mononuclear cell (PBMC) DPD radioassay. This observation prompted us to examine the data generated from healthy (cancer-free) Indian subjects who were enrolled in a large population study to determine the sensitivity and specificity of the uracil breath test (UraBT) in the detection of DPD deficiency. Thirteen Indian subjects performed the UraBT. UraBT results were confirmed by PBMC DPD radioassay. RESULTS: The Indian cancer patient demonstrated reduced DPD activity (0.11 nmol/min/mg protein) and severe 5-FU toxicities commonly associated with DPD deficiency. Of the 13 Indian subjects [ten men and three women; mean age, 26 years (range: 21-31 years)] enrolled in the UraBT, 12 Indian subjects demonstrated UraBT breath profiles and PBMC DPD activity within the normal range; one Indian subject demonstrated a reduced breath profile and partial DPD deficiency. CONCLUSIONS: DPD deficiency is a pharmacogenetic syndrome which is also present in the Indian population. If undiagnosed, the DPD deficiency can lead to death. Future epidemiological studies would be helpful to determine the prevalence of DPD deficiency among racial and ethnic groups, allowing for the optimization of 5-FU chemotherapy.- - - - - - - - - - ranking = 2.4keywords = deficiency (Clic here for more details about this article) |
13/35. 3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.We report a 19-month-old girl with a 3-methylcrotonyl-coenzyme a carboxylase deficiency that was detected through newborn screening. She was treated for the first 12 months but was lost to follow-up after the initial year. Her parents did not comply with the recommendations for management during periods of illness or for regular medical evaluations. During an acute illness, she presented with severe acidosis, hypoglycemia, and a low plasma carnitine level at 19 months of age. This report highlights the importance of more extensive follow-up plans to improve parental compliance.- - - - - - - - - - ranking = 5.1379081679338keywords = carboxylase, deficiency (Clic here for more details about this article) |
14/35. Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.Sepiapterin reductase deficiency (SRD) is a rare, treatable disorder of monoamine metabolism with cognitive delay and l-dopa responsive movement disorder. We describe a patient with SRD and distinctive phenotypic feature of marked hypersomnolence. Our patient showed improvement with therapies directed at both serotonergic and dopaminergic deficiencies. This case illustrates symptoms that characterize the SRD phenotype and demonstrates the importance of systematic treatment trials addressing the various biochemical abnormalities present.- - - - - - - - - - ranking = 1keywords = deficiency (Clic here for more details about this article) |
15/35. pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts.Cultured skin fibroblasts were obtained from 11 children with lactic acidemia and neurological disturbances. The residual activities of pyruvate dehydrogenase complex were 9 to 45% of control values in all specimens. Immunoblot analysis of mitochondrial proteins using polyclonal antibodies against the alpha and beta subunits of the first component (E1) of the pyruvate dehydrogenase complex revealed markedly decreased amounts of cross-reacting material in 4 boys who died in infancy. Two of the boys were half brothers related through a common mother. A fifth boy had an alteration of the electrophoretic mobility of the E1 alpha subunit and normal E1 beta subunit abundance. The remaining 6 patients (2 boys and 4 girls) had normal findings on Western blot assay, and all 11 patients had normal E2 and E3 patterns. These findings suggest that the E1 alpha subunit gene represents a genetically vulnerable site on the x chromosome. Decreased abundance of E1 components appears to be associated with death in infancy. A normal Western blot analysis is compatible with long-term survival despite decreased catalytic activity of the pyruvate dehydrogenase complex.- - - - - - - - - - ranking = 0.8keywords = deficiency (Clic here for more details about this article) |
16/35. Normalization of short-chain acylcoenzyme A dehydrogenase after riboflavin treatment in a girl with multiple acylcoenzyme A dehydrogenase-deficient myopathy.A 12-year-old girl was shown to have carnitine-deficient lipid storage myopathy and organic aciduria compatible with multiple acylcoenzyme A (acyl-CoA) dehydrogenase deficiency. In muscle mitochondria, activities of both short-chain acyl-coa dehydrogenase (SCAD) and medium-chain acyl-coa dehydrogenase (MCAD) were 35% of normal. antibodies against purified SCAD, MCAD, and electron-transfer flavoprotein were used for detection of cross-reacting material (CRM) in the patient's mitochondria. Western blot analysis showed absence of SCAD-CRM, reduced amounts of MCAD-CRM, and normal amounts of electron-transfer flavoprotein-CRM. The patient, who was unresponsive to treatment with oral carnitine, improved dramatically with daily administration of 100 mg oral riboflavin. Increase in muscle bulk and strength and resolution of the organic aciduria were associated with normalization of SCAD activity and "reappearance" of SCAD-CRM. In contrast, both MCAD activity and MCAD-CRM remained lower than normal. These results suggest that in some patients with multiple acyl-coa dehydrogenase deficiency riboflavin supplementation may be effective in restoring the activity of SCAD, and possibly of other mitochondrial flavin-dependent enzymes.- - - - - - - - - - ranking = 0.4keywords = deficiency (Clic here for more details about this article) |
17/35. Late-onset acid maltase deficiency associated with intracranial aneurysm.The autopsy findings in a patient with late-onset acid maltase deficiency who died following rupture of a basilar artery aneurysm are reported. The patient developed muscular weakness and wasting at the age of 20 years and died 9 years later after suddenly falling into a coma. At autopsy a giant fusiform aneurysm was found in the basilar artery which had ruptured at the base of the pons, leading to a large haematoma in the pons. The cerebral arteries and arterioles showed extensive vacuolar degeneration of smooth muscle cells in the media. It is suggested that the aneurysm was induced by fragility of the arterial wall due to this smooth muscle change.- - - - - - - - - - ranking = 1.0177656856166keywords = deficiency, late-onset (Clic here for more details about this article) |
18/35. Lipid storage myopathy associated with recurrent reye syndrome-like attacks, but with a normal carnitine level.A 7-year-old girl developed recurrent episodes of hepatic and cerebral dysfunction which mimicked those in reye syndrome (RS). Because of mild muscle weakness, she had repeated muscle biopsies which showed markedly increased amounts of lipid droplets, predominantly in type 1 fibers. Liver histological examination showed widespread hepatocellular steatosis. However, diffuse microvesicular fat, seen in RS, was not found in the cytoplasm. The concentrations of free- and acylcarnitine in serum and muscle were within normal ranges. Normal ketogenesis was induced by fasting. Based on the clinical, laboratory, and histopathological findings, our patient was initially thought to have systemic carnitine deficiency. However, the serum and muscle carnitine levels were within normal limits. Although the primary metabolic defect has yet to be elucidated, the present study indicates that lipid storage myopathy in the absence of carnitine deficiency can be complicated with RS-like episodes.- - - - - - - - - - ranking = 0.4keywords = deficiency (Clic here for more details about this article) |
19/35. biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.biotinidase deficiency is the most common cause of late onset, biotin-responsive multiple carboxylase deficiency (MCD). We studied the two oldest known boys with this disorder who had high CSF content of lactate that could have contributed to the clinical disorder. The symptoms of these patients implied that near physiologic, rather than pharmacologic, doses of biotin may be sufficient for treatment.- - - - - - - - - - ranking = 2.0275816335868keywords = carboxylase, deficiency (Clic here for more details about this article) |
20/35. Golgi and computer morphometric analysis of cortical dendrites in metabolic storage disease.Golgi and computer morphometric analysis of neuronal dendrites was done on four cases, one each of tay-sachs disease, infantile type 2 sialidosis, Hurler's syndrome, and Sanfilippo's syndrome. There were large meganeurites on pyramidal neurons in tay-sachs disease, and small ones in Hurler's and Sanfilippo's syndromes. All the meganeurites in these three diseases were predominantly distal to the soma in layer 3, but close to it in layer 5. These findings may be accounted for by different rates of ganglioside accumulation and cortical neuronal morphogenesis. Computer morphometric analysis revealed atrophic or less developed layer 5 dendritic length and branching in tay-sachs disease, sialidosis, and Hurler's syndrome compared with tissues from control patients. These dendritic changes may be secondary to ganglioside accumulation or due to abnormal surface membrane production during dendritic development. This study contributes to an understanding of how enzyme deficiency is translated into abnormal cell structure and, presumably, function.- - - - - - - - - - ranking = 0.2keywords = deficiency (Clic here for more details about this article) |
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