Abstract:
:Glutaric aciduria type I (GA-I) is an inborn error of lysine and tryptophan metabolism. Clinical manifestations of GA-I include dystonic or dyskinetic cerebral palsy, but when the symptoms occur, treatment is not effective. In Taiwan, newborn screening for GA-I started in 2001; we wish to evaluate the outcomes of patients detected through newborn screening. Newborns diagnosed with GA-I by abnormal dried blood spot glutarylcarnitine (C5DC) levels followed in our hospital were included in this study. They were treated with special diets, carnitine supplements, and immediate stress avoidance. Six patients were included in this study. All patients were treated prior to reaching 1 month of age. They were followed up with for 4 to 9 years. One patient had encephalopathic crisis episodes prior to turning 1 year old that caused pallidal lesions. Another patient had a chronic progressive disease during infancy that caused bilateral putamen lesions. These two patients had delayed development, but their brain lesions were resolved. The other four patients ran uneventful courses. They had normal intelligenece, ranged between average to low average level and their brain magnetic resonance imaging showed only high intensity over deep white matter. Patients with GA-I diagnosed by newborn screening have promising outcomes, though the risks of disease progression prior to 1 year of age remain significant.
journal_name
Metab Brain Disjournal_title
Metabolic brain diseaseauthors
Lee CS,Chien YH,Peng SF,Cheng PW,Chang LM,Huang AC,Hwu WL,Lee NCdoi
10.1007/s11011-012-9349-zsubject
Has Abstractpub_date
2013-03-01 00:00:00pages
61-7issue
1eissn
0885-7490issn
1573-7365journal_volume
28pub_type
杂志文章abstract::Hyperammonemia is necessary for development of the cerebral complications to liver disease including hepatic encephalopathy and cerebral edema but the mechanisms are unclear. Ammonia is taken up by the brain in proportion to its arterial concentration. The flux into the brain is most likely by both diffusion of NH3 an...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-014-9494-7
更新日期:2014-12-01 00:00:00
abstract::Several epidemiological studies have shown that Diabetes Mellitus (DM) or Insulin Resistance (IR) increases the risk of dementia. Besides, some authors suggested that poor glucose control to be associated with worse cognitive function. We aimed to assess cognitive functions and IR-degree over time in diabetic. We also...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-9977-4
更新日期:2017-06-01 00:00:00
abstract::Recent evidence has established that consumption of High-fat diet (HFD)-induced obesity is associated with deficits in hippocampus-dependent memory/learning and mood states. Nevertheless the link between obesity and emotional disorders still remains to be elucidated. This issue is of particular interest during adolesc...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0140-z
更新日期:2018-02-01 00:00:00
abstract::The associations between thyroid auto-immunity and neuro-psychiatric disorders are well-documented. However, there exists limited literature specifically linking auto-immune thyroid disease (AITD) to bipolar disorder (BD). Thus, we investigated the likely association between Hashimoto's disease and BD through the extr...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-019-00437-w
更新日期:2019-10-01 00:00:00
abstract::To investigate the hypothesis that neurotoxic metals can exert their toxicity through the direct inhibition of monoamine oxidases (MAOs), the effects of several neurotoxic metal ions on type A (MAO-A) and type B (MAO-B) monoamine oxidase activities in rat forebrain nonsynaptic mitochondria and rat liver mitochondria w...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF01000159
更新日期:1992-09-01 00:00:00
abstract::3-Nitropropionic acid (3-NPA) is a toxin sometimes produced on moldy crops (sugarcane, peanuts, etc.) in amounts sufficient to cause severe neurological disorders when consumed by humans. In vitro, 3-NPA irreversibly inactivates SDH, a Complex II respiratory enzyme required for mitochondrial energy production. A singl...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1023/a:1020753629477
更新日期:1999-06-01 00:00:00
abstract::While alcohol-induced psychotic disorder (AIPD) is well recognised, relatively little is known about the condition. We undertook a review of the literature to identify studies on the epidemiology, clinical manifestations, underlying neurobiology and treatment of AIPD. Few prospective studies have been conducted on AIP...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-013-9457-4
更新日期:2014-06-01 00:00:00
abstract::The lifetime prevalence rate for major depressive disorder (MDD) is approximately 17 % for most developed countries around the world. Dietary polyphenols are currently used as an adjuvant therapy to accelerate the therapeutic efficacy on depression. Ferulic acid (FA) or 4-hydroxy-3-methoxy-cinnamic acid (Fig. 1a) is a...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-015-9704-y
更新日期:2015-12-01 00:00:00
abstract::The radiological spectrum of neuromyelitis optica has become broader since the detection of aquaporin4 antibodies. We report a case of neuromyelitis optica patient with pseudotumoral encephalic lesion. A 66 year-old woman presented with sudden left lateral homonymous hemianopsia. A brain MRI showed an isolated and ext...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0141-y
更新日期:2018-02-01 00:00:00
abstract::In this work, we evaluated the effects of Psidium cattleianum (Red Type) (PcRT) fruit extract on metabolic, behavioral, and neurochemical parameters in rats fed with a highly palatable diet (HPD) consisted of sucrose (65% carbohydrates being 34% from condensed milk, 8% from sucrose and 23% from starch, 25% protein and...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0262-y
更新日期:2018-10-01 00:00:00
abstract::Calotropis procera (CP; Apocynaceae) is reported to have several neuroprotective activities however it's anti-depressant activity yet to be established. Therefore, the present study was proposed to evaluate the anti-depressant activity of the standardized ethanolic extract of CP (ECP) in chronic unpredictable mild str...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-019-00471-8
更新日期:2019-12-01 00:00:00
abstract::Homocystinuria is an inborn error of sulfur amino acid metabolism characterized predominantly by vascular and nervous system dysfunction. In this study we determined the in vitro effects of homocysteine and methionine, metabolites which accumulate in homocystinuria, on Na+, K+-ATPase, and Mg2+-ATPase activities in syn...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1023/a:1015594111778
更新日期:2002-06-01 00:00:00
abstract::It has been suggested that antidepressants, including the selective serotonin reuptake inhibitors have neurotrophic effects. Nevertheless, the impact of treatment with a selective serotonin re-uptake inhibitor on regional brain volumes in social anxiety disorder has not been studied. 11 subjects with social anxiety di...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-010-9218-6
更新日期:2010-12-01 00:00:00
abstract::Sleep disturbances are prevalent among patients with Alzheimer's disease (AD) and often precede the onset and progression of dementia. However, there are no reliable animal models for investigating sleep disturbances in patients with sporadic AD (sAD), which accounts for more than 90% of all AD cases. In the present s...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0125-y
更新日期:2018-02-01 00:00:00
abstract::Increasing evidence indicates that fetal metabolic stress may result in a variety of post-natal perturbations during brain development. The goal of the study was to determine the duration of hypoxia/ischemia that would elicit a demonstrable regional depression of metabolism in the fetal brain and further to examine se...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-006-9031-4
更新日期:2006-12-01 00:00:00
abstract::Levels of high mobility group box 1 (HMGB1), an important inflammatory mediator, are high in the serum of febrile seizure (FS) patients. However, its roles in FS and secondary epilepsy after prolonged FS are poorly understood. We demonstrate HMGB1's role in the pathogenesis of hyperthermia-induced seizures (HS) and se...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0103-4
更新日期:2017-12-01 00:00:00
abstract::Hepatic encephalopathy is a common complication of hepatic cirrhosis. The clinical diagnosis is based on two concurrent types of symptoms: impaired mental status and impaired neuromotor function. Impaired mental status is characterized by deterioration in mental status with psychomotor dysfunction, impaired memory, an...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-013-9376-4
更新日期:2013-06-01 00:00:00
abstract::α-asarone (ASR) is a major bioactive compound isolated from the rhizome of Acorus tatarinowii Schott and it has extensive biological effects. Clinically, anxiety disorder is a common comorbidity of chronic pain. However, limited information is available regarding the effects of ASR on chronic pain-related anxiety. Thi...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0108-z
更新日期:2017-12-01 00:00:00
abstract::Rare metabolic diseases may sometimes arise acutely and endanger human life if not immediately recognized and treated. Marchiafava Bignami disease is an uncommon neurologic disorder described in alcohol abusers and characterized by an acute severe damage of brain white matter. Even more rarely, it has been reported in...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-016-9893-z
更新日期:2017-02-01 00:00:00
abstract::Autism (MIM 209850) is a heterogeneous neurodevelopmental disease that manifests within the first 3 years of life. Numerous articles reported that dysfunctional folate-methionine pathway enzymes may play an important role in the pathophysiology of autism. Methylenetetrahydrofolate reductase (MTHFR) is a critical enzym...
journal_title:Metabolic brain disease
pub_type: 杂志文章,meta分析,评审
doi:10.1007/s11011-016-9815-0
更新日期:2016-08-01 00:00:00
abstract::Heart failure patients often manifest white matter hyperintensites on brain magnetic resonance imaging (MRI). White matter hyperintnsities have also been linked with cognitive problems in patients with heart failure. Sleep disordered breathing may contribute to structural brain changes in heart failure. The purpose of...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0309-0
更新日期:2018-12-01 00:00:00
abstract::Previous studies have been conducted to explore the association between proline dehydrogenase gene (PRODH) polymorphisms and schizophrenia (SZ) susceptibility, but providing the controversial results. Here we performed this meta-analysis to determine whether PRODH variants were associated with SZ risk. Relevant studie...
journal_title:Metabolic brain disease
pub_type: 杂志文章,meta分析
doi:10.1007/s11011-017-0128-8
更新日期:2018-02-01 00:00:00
abstract::Type 2 diabetes (T2D) and Alzheimer's disease (AD) are two progressive disorders with high prevalence worldwide. Polymorphisms in tumor necrosis factor-alpha (TNF-α) and apolipoprotein E (ApoE) genes might be associated with both T2D and AD, representing possible genetic markers for the development of the AD in subjec...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-012-9310-1
更新日期:2012-12-01 00:00:00
abstract::In the normal adult brain, glucose provides 90% of the energy requirements as well as substrate for nucleic acid and lipid synthesis. In the present study, effects of ethanol on glucose transporters (GLUT) and glucose utilization were examined in rat brain. Male Sprague-Dawley rats weighing 250-300 gms were given eith...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/BF02674530
更新日期:2000-09-01 00:00:00
abstract::The integrity of the blood-brain barrier (BBB) is an important aspect of normal central nervous system (CNS) function. Recently, it was shown that the BBB breakdown is one of the predisposing factors in the pathogenesis of thiamine-deficiency encephalopathy. The result is discussed along with some reviews on previous ...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/BF02080931
更新日期:1996-03-01 00:00:00
abstract::Iron is an important micronutrient for neuronal function and survival. It plays an essential role in DNA and protein synthesis, neurotransmission and electron transport chain due to its dual redox states. On the contrary, iron also catalyses the production of free radicals and hence, causes oxidative stress. Therefore...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1007/s11011-014-9522-7
更新日期:2014-09-01 00:00:00
abstract::Mitochondrial dysfunction is observed in brains of Alzheimer's Disease patients as well as many rodent model systems including those modeling mutations in preseinilin 1 (PSEN1). The aim of our study was to characterize mitochondrial function and number in fibroblasts from AD patients with PSEN1 mutations. We used bioc...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-015-9667-z
更新日期:2015-10-01 00:00:00
abstract::Multiple sclerosis (MS) is a demyelinating and degenerative disease of the central nervous system (CNS) with a strong inflammatory component that affects more than 2 million people worldwide (and at least 400,000 in the United States). In MS, macrophage migration inhibitory factor (MIF) and D-dopachrome tautomerase (D...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-018-0331-2
更新日期:2019-02-01 00:00:00
abstract::Bilateral, symmetrical hyperintensity of the globus pallidus is observed in T1-weighted cerebral magnetic resonance images in from 52 to 100% of patients with chronic liver disease. No significant relationship exists between the presence of these cerebral changes in image signal intensity and the patients' neuropsychi...
journal_title:Metabolic brain disease
pub_type: 杂志文章,评审
doi:10.1023/a:1020680624084
更新日期:1998-12-01 00:00:00
abstract::Antipsychotics, such as risperidone, increase food intake and induce alteration in glucose and lipid metabolism concomitantly with overweight and body fat increase, these biological abnormalities belong to the metabolic syndrome definition (high visceral adiposity, hypertriglyceridemia, hyperglycemia, low HDL-choleste...
journal_title:Metabolic brain disease
pub_type: 杂志文章
doi:10.1007/s11011-017-0133-y
更新日期:2018-02-01 00:00:00