1/111. Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure.Tyrosinemia type l is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase, a terminal enzyme in the degradation pathway of tyrosine. Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, fever, vomiting, diarrhea, hepatomegaly, ascites, jaundice, renal fanconi syndrome, or conditions such as rickets and hepatocellular carcinoma.1 If untreated, the patient may die of acute liver failure before the second year of life, or from chronic liver failure or hepatocellular carcinoma before the end of the second decade of life.2 Although overt liver failure with coagulopathy may be part of the presentation of tyrosinemia, a significant coagulopathy in the absence of overt signs of liver disease has not been emphasized as a clue to the diagnosis of this condition. We report two tyrosinemic infants who presented with severe coagulopathies and no other signs of liver failure to stress this diagnostic point.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
2/111. Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.A mildly retarded infant with failure to thrive developed hypoglycaemia, focal seizures, respiratory failure and hemiparesis during a febrile episode at the age of 16 months. A brain scan was initially normal and showed hemilateral focal edema and gliosis at later stages. 3-Methylcrotonyl-CoA carboxylase deficiency was suggested by elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, and confirmed by enzyme assays. The patient was treated with protein restriction and carnitine and remained stable during the following 5 years. Hemiparesis and some developmental delay persisted. In acute focal brain disease, metabolic disorders must be considered. 3-Methylcrotonyl-CoA carboxylase deficiency adds to the list of possible causes of "metabolic stroke".- - - - - - - - - - ranking = 1.0009813278077keywords = metabolic disorder, brain (Clic here for more details about this article) |
3/111. Severe late acute allograft rejection in a child after living-related auxiliary partial orthotopic liver transplantation for ornithine transcarbamylase deficiency.Auxiliary liver transplantation (ALT) is known to correct liver-based metabolic disorders. However, it remains unclear whether the presence of a native liver influences the long-term prognosis of ALT for metabolic diseases. We reported on a 4-yr-old girl who had undergone living-related auxiliary partial orthotopic liver transplantation (APOLT) for ornithine transcarbamylase deficiency and experienced severe late acute rejection 18 months after liver transplantation, during weaning of immunosuppressive agents. Results of histological analysis of the graft indicated very severe acute rejection (rejection activity index, 9/9), and computed tomography revealed graft liver atrophy. These observations suggest the possibility that severe rejection might occur in APOLT, especially during weaning of immunosuppression.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
4/111. Pulmonary hypertension associated with nonketotic hyperglycinaemia.Nonketotic hyperglycinaemia (NKH) is an autosomal recessive disorder characterized by defective glycine degradation by the mitochondrial glycine cleavage system. The clinical features include lethargy, hypotonia, apnoea, seizures and severe psychomotor retardation, all attributed to the accumulation of glycine in the nervous system. Pulmonary hypertension (PHN) has not been reported in NKH. We describe four patients with NKH who had PHN in addition to the characteristic manifestations of NKH. This newly recognized association might provide additional insight into the underlying pathophysiology of PHN.- - - - - - - - - - ranking = 3.7040985385892E-5keywords = nervous system (Clic here for more details about this article) |
5/111. D-2-hydroxyglutaric aciduria with cerebral, vascular, and muscular abnormalities in a 14-year-old boy.D-2-Hydroxyglutaric Aciduria is a rare metabolic disorder that can cause injury to the brain and other organs. This case report concerns a 14-year-old boy showing irritability and typical signs of pyloric stenosis early postnatally. From the age of 3 months he had epilepsy. He was mentally retarded, hypotonic with preserved reflexes, and dystonic. The features were dysmorphic with elongated head and high arched palate. cardiomegaly with aortic insufficiency was diagnosed. magnetic resonance imaging of the brain revealed atrophy, reduced periventricular white matter, and multiple bilateral aneurysms of the middle cerebral arteries. The boy died at the age of 14 years. autopsy confirmed the white-matter reduction of the cerebral hemispheres as well as the arterial aneurysms of the middle cerebral arteries. Lesions of a few leptomeningeal and cerebral microvessels and of the renal and pulmonary arteries were also found. There were bilateral infarcts of the kidneys and signs of cardiomyopathy with noncompensated left ventricular failure. Signs of myopathy were evident. The clinical and postmortem findings imply a disseminated mesenchymal process.- - - - - - - - - - ranking = 1.0009813278077keywords = metabolic disorder, brain (Clic here for more details about this article) |
6/111. Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria.The enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) catalyzes the reaction of 4-hydroxyphenylpyruvic acid to homogentisic acid in the tyrosine catabolism pathway. A deficiency in the catalytic activity of HPD may lead to tyrosinemia type III, an autosomal recessive disorder characterized by elevated levels of blood tyrosine and massive excretion of tyrosine derivatives into urine. It has been postulated that hawkinsinuria, an autosomal dominant disorder characterized by the excretion of 'hawkinsin,' may also be a result of HPD deficiency. Hawkinsin is a sulfur amino acid identified as (2-l-cystein-S-yl, 4-dihydroxycyclohex-5-en-1-yl)acetic acid. patients with hawkinsinuria excrete this metabolite in their urine throughout their life, although symptoms of metabolic acidosis and tyrosinemia improve in the first year of life. We performed analyses of the HPD gene in a patient with tyrosinemia type III and two unrelated patients with hawkinsinuria. A homozygous missense mutation predicting an Ala to Val change at codon 268 (A268V) in the HPD gene was found in the patient with tyrosinemia type III. A heterozygous missense mutation predicting an Ala to Thr change at codon 33 (A33T) was found in the same HPD gene in the two patients with hawkinsinuria. These findings support the hypothesis that alterations in the structure and activity of HPD are causally related to two different metabolic disorders, tyrosinemia type III and hawkinsinuria.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
7/111. Detection of inherited metabolic disorders via tandem mass spectrometry in Thai infants.From a retrospective study in Medical genetics Unit, Department of pediatrics, Siriraj Hospital faculty of medicine, Mahidol University in Bangkok (1983-1988), the estimated pediatric patients with clinically suspected IEM are approximately 2-4% of total annual pediatrics admission of 5,000 or more. This is, a low estimation since survey from all teaching hospitals in the country including the largest Children's Hospital in Bangkok indicated the presence of numerous IEM. However, most IEM were clinically diagnosed with limited laboratory facilities. We started a collaboration with Magee Womens Hospital of Pittsburgh and NeoGen Screening, USA; using tandem mass spectrometry to diagnose high risk infants and children for IEM from July 1993 to March 1998. Of total 146 samples sent, we detected numerous metabolic disorders (11.2%) eg phenylketonuria, organic acidemia, maple syrup urine disease, isovaleric acidemia, methylmalonic acidemia, albinism, translocase/carnitine palmitoyltransferase type II, G6PD deficiency and lysinuric protein intolerance.- - - - - - - - - - ranking = 5keywords = metabolic disorder (Clic here for more details about this article) |
8/111. Isolated sulfite oxidase deficiency: MR imaging features.Isolated sulfite oxidase deficiency is a rare autosomal inherited disorder of the normal degradation of sulfur-containing amino acids. Premature death in infancy secondary to severe neurologic deterioration is the usual outcome. This article provides an analysis, in temporal form, of brain imaging findings in this disorder.- - - - - - - - - - ranking = 0.00049066390385562keywords = brain (Clic here for more details about this article) |
9/111. Morphologic studies of the placenta and autopsy findings in neonatal-onset glutaric acidemia type II.A case of neonatal-onset glutaric acidemia type II with electron-transfer flavoprotein (ETF) deficiency is presented. The morphological pattern of disease in the male infant included hypospadias, cryptorchidism, bilateral 13 ribs, nuclear cataract, cystic dysplasia of kidneys, lipid accumulation in the liver and renal tubular epithelium, and immature brain with white matter gliosis. The morphologic examination of the placenta revealed features of delayed maturation, including large-for-gestational-age size and abundant immature intermediate villi with cellular syncytiotrophoblast, persistent villous cytotrophoblast, and decreased syncytial knots. In addition, immature intermediate villi showed exaggeration of lacunar interstitial spaces consistent with non-hydropic villous edema. Marked lipid accumulation was seen within extravillous trophoblasts of placental septa and cell islands. light lipid accumulation was also noted within fibroblasts of stem villi. These findings suggest that in glutaric acidemia type II, fatty acid oxidation could also be affected in the placenta.- - - - - - - - - - ranking = 0.00049066390385562keywords = brain (Clic here for more details about this article) |
10/111. prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia.Abnormalities of the corpus callosum are often associated with a poor prognosis due to the anatomical defect itself and associated anomalies that include malformations and inherited metabolic disorders. We report a case of the prenatal diagnosis of hypoplasia of the corpus callosum that was associated with non-ketotic hyperglycinemia. Metabolic disorders are a known association with corpus callosum abnormalities and carry a dismal prognosis. A diagnosis of non-ketotic hyperglycinemia should be considered when a fetus presents with an abnormality of the corpus callosum. A literature search reviews other inherited diseases associated with hypoplasia of the corpus callosum.- - - - - - - - - - ranking = 1keywords = metabolic disorder (Clic here for more details about this article) |
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