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1.
Organic acid disorders are inherited metabolic disorders in which organic acids accumulate in tissues and biological fluids of affected individuals. Classical organic acidurias include methylmalonic aciduria, propionic aciduria, isovaleric aciduria and maple syrup urine disease (MSUD). They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present with acute symptoms early in life. 420 cases clinically suspected to have organic aciduria, with upper age limit of 12 years for a 2-year period (January 2007–December 2008) were enrolled into this study. Metabolic acidosis and neurological symptoms were the most common signs. Screening tests and thin layer chromatography were done for detection of organic acidurias. Identification and quantitation of organic acids in urine and quantification of amino acids in blood were done by high performance liquid chromatography. Out of 420 patients, 45 patients (10.7%) were found to have organic acidurias. 15 cases of methylmalonic aciduria, 16 cases of propionic aciduria, 13 cases of MSUD, and one case of isovaleric aciduria were diagnosed. Results demonstrate the importance of testing for organic acidurias. Since organic aciduria may cause irreversible brain damage if not treated, we recommend selective screening amongst severely ill children despite implied extra costs.  相似文献   

2.
The effect of acute hypoxic hypoxia on the profile of plasma amino acids in rats was studied and compared to that resulting from acute liver injury induced by giving carbon tetrachloride. In hypoxic rats exposed to 45% air in N2 for 5 h, the concentrations of branched chain amino acids, including valine, leucine and isoleucine, and aromatic amino acids such as phenylalanine and tyrosine were significantly increased as compared to those in normoxic rats. The ratio of branched-chain to aromatic amino acids (Fischer’s ratio) was significantly decreased. The levels of arginine and citrulline, which are related to the urea cycle, were also depressed. Furthermore, plasma proline level was reduced in hypoxic rats. The activities of plasma marker enzymes for tissue damage remained unchanged during hypoxia, indicating that tissue injury was not induced by exposure to hypoxic conditions. We suggest that the characteristic profile of plasma amino acids and the Fischer ratio are valuable tools for understanding the pathology of acute hypoxia in the absence of systemic tissue damage.  相似文献   

3.
Short-chain acyl-CoA dehydrogenase (ACAD) deficiency is an extremely rare inherited mitochondrial disorder of fat metabolism. This belongs to a group of diseases known as fatty acid oxidation disorders. Screening programmes have provided evidence that all the fatty acid oxidation disorders combined are among the most common inborn errors of metabolism. Mitochondrial beta oxidation of fatty acids is an essential energy producing pathway. It is a particularly important pathway during prolonged periods of starvation and during periods of reduced caloric intake due to gastrointestinal illness or increased energy expenditure during febrile illness. The most common presentation is an acute episode of life threatening coma and hypoglycemia induced by a period of fasting due to defective hepatic ketogenesis. Here, the case of a 4 month old female patient who had seizures since the third day of her birth and persistent hypoglycemia is described. She was born to parents of second degree consanguinity after 10 years of infertility treatment. There was history of delayed cry after birth. Metabolic screening for TSH, galactosemia, 17-OHP, G6PD, cystic fibrosis, biotinidase were normal. Tandem mass spectrometric (TMS) screening for blood amino acids, organic acids, fatty acids showed elevated butyryl carnitine (C4) as 3.40 μmol/L (normal <2.00 μmol/L), hexanoyl carnitine (C6) as 0.92 μmol/L (normal <0.72 μmol/L), C4/C3 as 2.93 μmol/L (normal <1.18 μmol/L). The child was started immediately on carnitor syrup (carnitine) 1/2 ml twice daily. Limitation of fasting stress and dietary fat was advised. Baby responded well by gaining weight and seizures were controlled. Until now, less than 25 patients have been reported worldwide. The limited number of patients diagnosed until now is due to the rarity of the disorder resulting in under diagnosis.  相似文献   

4.
The mucopolysaccharidoses (MPSs) are a heterogeneous group of rare inherited disorders caused by deficiency of lysosomal enzyme necessary to break down mucopolysaccharides or glycosaminoglycans (GAGs). We had combined clinical findings and ophthalmological features. Biochemical test for urine glycosaminoglycans was done for confirmation of diagnosis in the patient. The case of Sanfillippo’s disease was characterized by delayed development, hyperactivity with aggressive behaviour. Coarse facial feature, hirsutism and sleep disorder. Urine GAG tests for MPS was positive in the case. Based on clinical findings and biochemical tests for MPS, this case was diagnosed as a type III mucopolysaccharidoses. Urinary GAG’s electrophoresis is an important screening test for MPS suspected cases.  相似文献   

5.
Albright hereditary osteodystrophy (AHO) is a rare hereditary metabolic disorder that may or may not be associated with resistance to parathyroid hormone (pseudohypoparathyroidism) or other hormones. The disorder is commonly characterized by a constellation of dysmorphic physical features and with biochemical levels that demonstrate hypocalcaemia and hyperphosphatemia. We report here a clinical case of a 14 year old male with AHO and we discuss his clinical features, radiographic and laboratory findings along with treatment.  相似文献   

6.
A 3 month old male child was brought to the hospital with complaints of skin rashes, developmental delay, seizures, seborrheic dermatitis, alopecia and mild, acidosis. The child was subjected to a simple metabolic screening protocol. The result of the screening and the clinical symptoms provided an index pointing towards biotinidase deficiency., a rare autosomal recessive, inherited metabolic disorder. The enzyme was then assayed by using n-biotinylp-aminobenzoate as substrate and the diagnosis confirmed. A follow-up of the case indicated the efficacy, of biotin supplementation in biotinidase deficiency.  相似文献   

7.
Leucine amino peptidase (LAP) activity was studied in serum and urine samples of 25 healthy ambulant subjects, 20 patients with localised and 41 patients with malignant disseminated disease. Serum levels of the enzyme were elevated but not significantly in both localised and disseminated disease whereas the urinary activity of the enzyme was markedly elevated in disseminated disease (p<0.001) as compared to localised disease. This quantitative method used for determination is reliable, accurate, simple, rapid and cost effective and therefore has better application as an indicator of disseminated disease in a clincal setting.  相似文献   

8.
The problem of pesticides is not new and its exposure to human due to indiscriminate use is largely associated with the health related problems including neurotoxicological alterations. High levels of pesticide residues and their metabolites in the dietary constituents, food materials, maternal blood, cord blood, placenta breast milk have been reported and linked to alterations in birth weight, crown heel length, head circumference, mid-arm circumference and ponderal index of the neonates. Epidemiological studies have suggested that exposure of pesticide to human could be a significant risk factor for neurological disorders, including Parkinson’s disease, Alzheimer’s disease and multiple sclerosis. Cholinergic and non-cholinergic dysfunctions in pesticide exposed population, especially in children have also been frequently reported in recent years. Developmental neurotoxicity is another concern in the area where pregnant are more prone towards its exposure and which results in the abnormalities in the fetus. In view of the increasing risk of human health through pesticide exposure, the present review has been focused on the studies pertaining to pesticide induced neurochemical alterations and associated behavioral abnormalities in farm workers which could establish a possible link between the its exposure and associated health hazards.  相似文献   

9.
Quantification of total and individual amino acids in biological fluids such as plasma, urine and cerebrospinal fluid has an important diagnostic implication in laboratory medicine. The present paper describes protocols for the assay of total amino acids by modified method based on dinitrophenyl and HPLC profile involving pre-column derivatization with o-pthalaldehyde (OPA) derivatization, respectively. The method, based on the alkylation of-SH groups prior to OPA derivatization of amino acids followed by reverse phase high performance liquid chromatography, provide a comprehensive profile of more than twenty amino acids (including-SH group containing) in a single run lasting about 45 minutes. The present study, apart from establishing the normal profile of amino acids in plasma of Indian sub population, also presents HPLC profile for some of the rare amino acidopathies.  相似文献   

10.
Alkaptonuria, a rare inborn error of tyrosine metabolism, characterized by the absence of homogentisic acid oxidase results in the accumulation of homogentisic acid in the body. Associated renal failure and cerebral infarction is rare and usually occurs in the later stages of the disease. We report a 55-year-old male who presented, initially with features of stroke and degenerative arthritis. He had pigmentation of sclerae, darkening of urine on long standing, abnormal renal profile, degenerative arthritis and cerebral infarction. Alkaptonuria was suspected and biochemical tests confirmed mild renal impairment, homogentisic acid in urine and homogentisic acid crystal was detected cytologically in urine sediment. Such a case of Alkaptonuric ochronosis with cerebrovascular and renal complications have been rarely reported in the previous literature.  相似文献   

11.
Human urine gives evidence of the metabolism in the body and contains numerous organic acids and other compounds at a variety of concentration. The concentration of organic acids in urine varies from population to population due to genotype, food habits and other epigenetic and environmental influences. Knowledge of the reference values for urinary organic acids in a healthy pediatric population is very important for critical evaluation. This study was designed to quantify 16 organic acids in a healthy north Indian pediatric population. Early morning urine samples from healthy pediatric subjects of age 1 day to 16 years who did not have symptoms of any disease were analyzed for organic acid content. The children were not on any supplemental vitamins or drugs and were on a free and unrestricted diet. The creatinine concentration of each sample was determined before organic acid analysis. Organic acids were extracted from urine with ethyl acetate, extracted residue was air dried, converted into trimethylsilyl derivatives and analysed by gas chromatography mass spectrometry. Here we reported the age wise mean values and standard deviations for each compound, adjusted for creatinine content (mmol/mol of creatinine). We found the concentration of most of the metabolites are higher in our population in comparison to other populations. Such data may help to provide a basis for diagnosing metabolic abnormalities in patients in a specific ethnicity.  相似文献   

12.
Mucopolysaccharidosis are a group of rare metabolic disorders of the lysosomal storage disease family caused by the absence or malfunctioning of lysosomal enzymes responsible for their breakdown. It encompasses disorders in which undegraded or partly degraded glycosaminoglycans accumulate in the lysosomes of many tissues owing to a deficiency of specific lysosomal enzymes. Here we report a case of a 7 years old child displaying the symptoms of Morquio’s disease (Mucopolysaccharidosis type IV). Urine screening tests were performed which gave contrasting results.  相似文献   

13.
Stroke is the third major cause of death and foremost cause of disability worldwide. Cerebrovascular stroke remains largely a clinical diagnosis. The use of biomarkers in diagnosing stroke and assessing prognosis is an emerging and rapidly evolving field. The study aimed to investigate the predictive value of neurobiochemical marker of brain damage (neuron-specific enolase [NSE]) with respect to degree of disability at the time of admission and neurological worsening in acute ischemic stroke patients. We investigated 150 patients with cerebrovascular stroke who were admitted within 72 h of onset of stroke in the Department of Neurology at SAIMS. Venous blood samples were taken after admission and NSE was analyzed by solid enzyme linked immunosorbent assay using Analyzer and microplate reader from Biored: Code 680. In all patients, the neurological status was evaluated by a standardized neurological examination and the National Institutes of Health Stroke Scale on admission and on day 7. Serum NSE concentration was found to significantly correlate with both degree of disability and neurological worsening in acute ischemic stroke cases in the present study. The maximum serum NSE level within 72 h of admission was significantly higher in patients with greater degree of disability at the time of admission. Serum NSE levels were also found to be significantly elevated in patients with bad neurological outcome. Our study showed that serum NSE has high predictive value for determining severity and early neurobehavioral outcome after acute stroke.  相似文献   

14.
Alkaptonuria, a metabolic disorder characterized by a triad of homogentisic aciduria, arthritis and ochronosis is one of the first conditions in the charter of group of inborn errors of metabolism proposed to have Mendelian recessive inheritance. It is due to the deficiency of the enzyme homogentisic acid oxidase which catalyzes the conversion of homogentisic acid to maleylacetoacetic acid in the catabolism of tyrosine. Homogentisic acid thus accumulates in cells and body fluids and its oxidized polymers bind to collagen, leading to progressive deposition of grey to bluish black pigment resulting in degenerative changes in cartilage, intervertebral disc and other connective tissues, leading to arthritis which is the only disabling effect in an affected older individual. However the diagnosis can be made in neonates when blackish stain is noticed in an unwashed diaper. Alkaptonuria is treated symptomatically, surgical intervention necessitates in advanced stages, treatment with ascorbic acid (Vitamin C) and dietary restrictions of food containing phenylalanine and tyrosine have proved to be successful in alleviating the symptoms.  相似文献   

15.
348 patients of chronic obstructive pulmonary diseases (COPD) were studied for their acid base profile using ABL-3 blood gas analyser (Radiometer, copenhagan). 185 patients (53.1%) had simple disorders (respiratory acidosis—53%, respiratory alkalosis—25.4%, metabolic acidosis—11.3%, metabolic alkalosis—10.2%). Mixed disorders were present in 131 patients (34.9%) (respiratory acidosis and metabolic acidosis—75.2%, respiratory acidosis and metabolic acidosis—14%, metabolic acidosis and metabolic alkalosis—5.7%, metabolic alkalosis and respiratory alkalosis—4.9%). Hypoxemia without other acid base abnormalities was observed in early patients of GOPD (42 patients—12%). Chronic respiratory acidosis was the most common finding in advanced cases of COPD (98%). An almost equal number of such patients had a mixed disorder of respiratory acidosis with metabolic alkalosis (91%). Salt restriction, prolonged use of steriods and hypokalemia were often related to metabolic alkalosis in such patients.  相似文献   

16.
Alstrom’s syndrome (AS) is a rare autosomal recessive ciliopathic condition affecting 1:10,00,000 children. It’s a single gene disorder of ALMS1 on chromosome 2 with multisystem involvement with cone-rod retinal dystrophy causing juvenile blindness, obesity, insulin resistance, type 2 Diabetes mellitus, hypogonadism and sensorineural hearing loss. Till now only 800 patients with this disorder has been identified so far. In this report, we describe the case of a 9-year old male boy from south India. He had been initially referred for polyphagia, polyuria, polydipsia, generalized weakness from 1 weeks. On examination he was demonstrated features suggestive of AS, including blindness, obesity, type 2 diabetes, altered lipid profile, hypogonadism, acanthosis nigricans, seborrheic dermatitis, right ear discharge and episodes of respiratory tract infections. So, diagnosis of AS is critical as it can easily be overlooked because of the many features associated with metabolic syndrome starting at age 7, a relatively early age.  相似文献   

17.

Background

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare inherited mitochondrial fatty acid oxidation disorder associated with variations in the ACADS (Acyl-CoA dehydrogenase, C-2 to C-3 short chain) gene. SCADD has highly variable biochemical, genetic and clinical characteristics. Phenotypes vary from fatal metabolic decompensation to asymptomatic individuals.

Subject and methods

A Romani boy presented at 3 days after birth with hypoglycaemia, hypotonia and respiratory pauses with brief generalized seizures. Afterwards the failure to thrive and developmental delay were present. Organic acids analysis with gas chromatography-mass spectrometry (GS/MS) in urine and acylcarnitines analysis with liquid chromatography-tandem mass spectrometry (LC-MS/MS) in dried blood spot were measured. Deoxyribonucleic acid (DNA) was isolated from blood and polymerase chain reactions (PCRs) were performed for all exons. Sequence analysis of all exons and flanking intron sequences of ACADS gene was performed.

Results

Organic acids analysis revealed increased concentration of ethylmalonic acid. Acylcarnitines analysis showed increase of butyrylcarnitine, C4-carnitine. C4-carnitine was 3.5 times above the reference range (<0.68 µmol/L). Confirmation analysis for organic acids and acylcarnitine profile was performed on the second independent sample and showed the same pattern of increased metabolites. Sequence analysis revealed 3-bp deletion at position 310-312 in homozygous state (c.310_312delGAG). Mutation was previously described as pathogenic in heterozygous state, while it is in homozygous state in our patient.

Conclusions

In our case clinical features of a patient, biochemical parameters and genetic data were consistent and showed definitely SCAD deficiency.Key words: SCAD deficiency, short chain acyl-CoA dehydrogenase deficiency, screening, acylcarnitine, polymorphism, genetic  相似文献   

18.
陈海艳  涂燕云 《大众科技》2014,(10):114-116
肝性脑病（hepatic encephalopathy,HE）是由急、慢性肝功能衰竭或各种门-体分流（porto-systemic venous shunting,PSS）引起的以代谢紊乱为基础的、并排除了其它已知脑病的中枢神经系统失调综合征。常以神经精神症状,如性格改变、行为异常、智力减退等为突出表现,发病机制复杂,但经过合理、及时治疗后,该综合征具有潜在的可逆性。如何选择合理有效的药物预防和防止肝性脑病复发,逆转患者的精神神经系统失调已经成为目前研究热点。笔者针对目前微生态制剂药物组成、作用机制、临床疗效及其对治疗肝性脑病的研究进展做一综述。  相似文献   

19.
Alanine aminotransferase (ALT) is the most common and cost effective screening test for asymptomatic liver disease. There is paucity of data on normal ALT among healthy individuals in India. An observational cross sectional study was conducted from January to July 2013 to estimate the upper limit of normal for ALT in healthy south Indian population. Adults undergoing voluntary or pre-employment health screening were included. Those with current and past alcoholism or smoking, acute illness or hospitalization during preceding 12 months, non-steroidal anti-inflammatory or over the counter medication use within a month, current or past intake of herbal medications, any chronic medical illness, abnormal body mass index (BMI), fatty liver in ultrasound, abnormality in haemoglobin, platelet count, blood sugar, creatinine, lipid profile and thyroid function test and positive serology (Hepatitis B, C or HIV) were excluded. A total of 2600 subjects were screened. 344 were included for analysis. Mean age was 35 years in men and 34.83 years in women, with a mean BMI of 22.2 kg/m2 in men and 21.8 kg/m2 in women. The mean ALT in men and women were 21.87 ± 2.9 (97.5th percentile 28 U/L) and 19.35 ± 3.3 (97.5th percentile 24 U/L) respectively. In conclusion, mean and upper limit of ALT (97.5th percentile) in south Indian men was 21.87 and 28 IU/L and women were 19.35 and 24 IU/L respectively. There is a need to re-consider ALT levels in our population for better detection of individuals at risk for liver disease.  相似文献   

20.
Inherited metabolic disorders are a heterogeneous group of genetic conditions mostly occurring in childhood. They are individually rare but collectively numerous, causing substantial morbidity and mortality. We have retrospectively reviewed a total of eight hundred and sixty nine cases with different age groups that had been referred from several diagnostic centers and hospitals of India to the Department of Metabolism in Narayana Hrudayalaya, as cases suspected with inborn errors of metabolism. Advanced techniques applied were to diagnose the disorders of inborn errors of metabolism. Data analyzed indicates occurrence of several metabolic disorders in our population. The need to screen for an inborn error of metabolism arises out of the fact that most cases take to irreversible effects as time progress. Emphasis has to be laid on early detection and prompt management, which could help in alleviating symptoms and preventing complications and consequent incapacitation.  相似文献   

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