1/29. 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 = 1keywords = metabolic disorder (Clic here for more details about this article) |
2/29. Phenylketonuria due to a deficiency of dihydropteridine reductase.The onset of neurologic symptoms in a child who had markedly elevated blood phenylalanine levels during the first two weeks of life and who was promptly treated with a low phenylalanine diet, with excellent control of serum phenylalanine levels, suggested that this child had an unusual form of phenylketonuria. In assays of the components of the phenylalanine hydroxylating system (open liver biopsy at 14 months), the activity of phenylalanine hydroxylase was 20 per cent of the average normal adult value. By contrast, no dihydropteridine reductase activity was detected in the patient's liver, brain or cultured skin fibroblasts. Since dihydropteridine reductase is also essential for the biosynthesis of dopamine, norepinephrine, and serotonin, disturbed neurotransmitter function may be responsible for the patient's neurologic deterioration. On the basis of these results, assay of reductase in cultured skin fibroblasts may be advisable in the initial diagnosis of phenylketonuria.- - - - - - - - - - ranking = 0.00019861529263082keywords = brain (Clic here for more details about this article) |
3/29. Phenylketonuria in Indian children.Three untreated phenylketonuric Indian children aged respectively 3 1/2 years, 1 1/2 years and 1 year showed rapid neurological deterioration. plasma, cerebrospinal fluid and urine phenylalanine concentrations were significantly raised and the phenylalanine-tyrosine ratio was high. Analysis of a biopsy of the right frontal lobe of the brain in one case showed the myeline lipids--cerebroside and sulphatide--to be decreased. The total cerebroside in white matter was low. light microscopy showed marked pallor of the white matter of the brain and extensive spongy degeneration. Ultrastructurally these spongy vesicles are located between the lamellae of the myelin sheath.- - - - - - - - - - ranking = 0.00039723058526165keywords = brain (Clic here for more details about this article) |
4/29. Different presentations of late-detected phenylketonuria in two brothers with the same R408W/R111X genotype in the PAH gene.Although the clinical heterogeneity of phenylketonuria (PKU) is well established, some questions about this condition remain. Subjects from the same family who share the same mutations in the phenylalanine hydroxylase (PAH) gene are expected to display similar disease courses, and therefore, when blood phenylalanine (Phe) levels, genotype and dietary treatment are all similar, differences in patient outcomes require additional explanations. The present authors describe two entirely different courses of late-detected PKU in two brothers with the same R408W/R111X genotype in the PAH gene. The older sibling was diagnosed with PKU at the age of 4 years and given treatment. His IQ was 97 at 26 years of age and moderate involvement of periventricular white matter was detected. The younger brother was diagnosed with PKU at the age of 11 months and given treatment. His IQ was < 25 at 22 years of age and severe dysmyelination changes were found by magnetic resonance imaging. The differences in the courses of the disease between these two brothers appear to be related to variations in their blood-brain barriers.- - - - - - - - - - ranking = 0.00019861529263082keywords = brain (Clic here for more details about this article) |
5/29. Danger of high-protein dietary supplements to persons with hyperphenylalaninaemia.A 16-year-old adolescent with mild hyperphenylalaninaemia was given a high-protein 'body building' supplement twice daily, causing headaches, decreased school performance and mild depression. All symptoms disappeared after cessation of the supplement. The phenylalanine hydroxylase mutation H170D/IVS1nt5G>T was found to be responsive to tetrahydrobiopterin with significant decrease in blood phenylalanine concentration and increase in tyrosine blood content. A brain phenylalanine level of 0.5 mmol/L was initially documented, which decreased to the normal carrier range of 0.2 mmol/L within one month of discontinuance of the protein supplement. At present, the patient is on a normal diet without phenylalanine restriction.- - - - - - - - - - ranking = 0.00019861529263082keywords = brain (Clic here for more details about this article) |
6/29. Golgi-Kopsch silver study of the brain of a patient with untreated phenylketonuria, seizures, and cortical blindness.This report describes the morphological changes observed in the brain of an untreated 27-year-old man with phenylketonuria, cortical blindness, and seizures. Golgi-Kopsch silver, cresyl violet, and hematoxylin and eosin stains were used to study cell structure and organization of the cerebellum, the lateral geniculate nuclei, the visual cortex, frontal cortex, and hippocampus. Extensive neuronal losses occurred in the right lateral geniculate nucleus (LGN), the visual cortex, and hippocampus. The left LGN, cerebellum, and frontal cortex retained neuronal components; there was a reduction in the number of dendritic processes on the purkinje cells of the PKU subject. The loss of neurons in the LGN and occipital cortex is related to the blindness and the neuronal loss in the hippocampus is related to seizure activity.- - - - - - - - - - ranking = 0.00099307646315412keywords = brain (Clic here for more details about this article) |
7/29. Treatment of phenylketonuria-associated tremor with deep brain stimulation: case report.OBJECTIVE AND IMPORTANCE: Phenylketonuria (PKU) is an inborn error of metabolism that causes severe neurological impairment, despite dietary treatment. We present a case of PKU-induced cerebellar tremor treated with deep brain stimulation. There have been no previously reported cases of a patient with a PKU tremor treated with deep brain stimulation. CLINICAL PRESENTATION: A 36-year-old male patient with PKU presented with signs of cerebellar disease including dysmetria, resting tremor, and intention tremor in the left upper extremity. INTERVENTION: A deep brain stimulation electrode was placed in the ventral intermediate nucleus of the right thalamus. CONCLUSION: Immediately after surgery, the patient had nearly complete resolution of intention tremor in the left arm. His resting tremor in the left hand was also greatly improved. The 30-month follow-up examination revealed maintenance of the immediate postoperative improvement.- - - - - - - - - - ranking = 0.0013903070484158keywords = brain (Clic here for more details about this article) |
8/29. The use of a low phenylalanine diet with amino acid supplement in the treatment of behavioural problems in a severely mentally retarded adult female with phenylketonuria.If phenylketonuria is untreated in infancy, it causes irreversible brain damage. No dietary treatment can alter this brain damage. However, it has been shown that dietary treatment can reduce behaviour disturbances often associated with the condition. In this study, a subject's behaviour was monitored over 18 weeks while on a low phenylalanine diet. Results demonstrate a significant reduction in the level of her disturbed behaviour.- - - - - - - - - - ranking = 0.00039723058526165keywords = brain (Clic here for more details about this article) |
9/29. Spasticity and white matter abnormalities in adult phenylketonuria.A 19 year old male with phenylketonuria (PKU) developed a spastic paparesis 8 months after stopping his restricted phenylalanine diet. CT and MRI showed abnormalities of the deep cerebral white matter, and visual evoked response latencies were prolonged. The spasticity gradually improved over several months after resuming the PKU diet. A repeat MRI scan was unchanged. His brother also had PKU and ceased dietary restrictions, but his only neurological abnormality was a slight increase in the deep tendon reflexes of the lower limbs. CT and MRI of his brain was normal. dna analysis showed that both brothers were homozygous for the same PKU mutation. These patients demonstrate that reversible neurological signs may develop in patients with classic PKU after ceasing dietary restrictions and that these may be associated with abnormalities seen on neuro-imaging.- - - - - - - - - - ranking = 0.00019861529263082keywords = brain (Clic here for more details about this article) |
10/29. Neonatal hyperphenylalaninemia, perinatal hemochromatosis, and renal tubulopathy: a unique patient or a novel metabolic disorder?A neonate presented with hyperphenylalaninemia (HPA), with a persistently elevated phenylalanine/tyrosine ratio. The HPA was responsive to tetrahydrobiopterin (BH4). His clinical course was dominated by liver failure, associated with perinatal hemochromatosis. He also developed renal tubulopathy. HPA has not previously been reported in association with any of these features. We investigated the etiology of his condition, and discuss the possibility that this represents a novel single-gene disorder.- - - - - - - - - - ranking = 0.8keywords = metabolic disorder (Clic here for more details about this article) |
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