scholarly journals Premature Calcifications of Costal Cartilages: A New Perspective

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Walter Rhomberg ◽  
Antonius Schuster
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Endocrine Disorders ◽  
Inborn Errors ◽  
Laboratory Findings ◽  
Random Samples ◽  
Plain Films ◽  
New Perspective ◽  
Medical Disciplines

Background. Calcifications of the costal cartilages occur, as a rule, not until the age of 30 years. The knowledge of the clinical significance of early and extensive calcifications is still incomplete.Materials and Methods. A search was made to find patients below the age of 30 years who showed distinct calcifications of their lower costal cartilages by viewing 360 random samples of intravenous pyelograms and abdominal plain films. The histories, and clinical and laboratory findings of these patients were analyzed.Results. Nineteen patients fulfilled the criteria of premature calcifications of costal cartilages (CCCs). The patients had in common that they were frequently referred to a hospital and were treated by several medical disciplines. Nevertheless many complaints of the patients remained unsolved. Premature CCCs were often associated with rare endocrine disorders, inborn errors of metabolism, and abnormal hematologic findings. Among the metabolic disorders there were 2 proven porphyrias and 7 patients with a suspected porphyria but with inconclusive laboratory findings.Conclusion. Premature CCCs are unlikely to be a normal variant in skeletal radiology. The findings in this small group of patients call for more intensive studies, especially in regard to the putative role of a porphyria.

scholarly journals Fructose and Mannose in Inborn Errors of Metabolism and Cancer

Metabolites ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 479
Author(s):  
Elizabeth L. Lieu ◽  
Neil Kelekar ◽  
Pratibha Bhalla ◽  
Jiyeon Kim
Keyword(s):  
Metabolic Disease ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Diseases ◽  
Treatment Options ◽  
Biochemical Properties ◽  
Biological Molecules ◽  
Diagnostic Tools ◽  
Inborn Errors ◽  
Mannose Metabolism

History suggests that tasteful properties of sugar have been domesticated as far back as 8000 BCE. With origins in New Guinea, the cultivation of sugar quickly spread over centuries of conquest and trade. The product, which quickly integrated into common foods and onto kitchen tables, is sucrose, which is made up of glucose and fructose dimers. While sugar is commonly associated with flavor, there is a myriad of biochemical properties that explain how sugars as biological molecules function in physiological contexts. Substantial research and reviews have been done on the role of glucose in disease. This review aims to describe the role of its isomers, fructose and mannose, in the context of inborn errors of metabolism and other metabolic diseases, such as cancer. While structurally similar, fructose and mannose give rise to very differing biochemical properties and understanding these differences will guide the development of more effective therapies for metabolic disease. We will discuss pathophysiology linked to perturbations in fructose and mannose metabolism, diagnostic tools, and treatment options of the diseases.

Inborn Errors of Metabolism

1980 ◽  
Vol 2 (6) ◽  
pp. 175-181
Author(s):  
George M. Komrower
Keyword(s):  
Neurospora Crassa ◽  
Inborn Error ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Homogentisic Acid ◽  
Turn Of The Century ◽  
Inborn Errors ◽  
The Family ◽  
The One ◽  
Biochemical Abnormalities

Around the turn of the century Garrard established the concept of an inborn error of metabolism using his study on alcaptonuria to exemplify his hypothesis that a considerable number of metabolic disorders with clearly defined clinical, pathologic, and biochemical abnormalities arise because an enzyme governing a single metabolic step is either reduced in activity or missing altogether. He pointed out the familial distribution of alcaptonuria and later showed that the inheritance could be explained on mendelian principles, ie, the affected individual was homozygous for the abnormal gene and that the inheritance was recessive, both parents being heterozygous for the disorder. He suggested that the accumulation of homogentisic acid in alcaptonuria was evidence that this substance is a normal metabolite in the degradation of tyrosine and attributed this accumulation to a failure of oxidation of homogentisic acid. In addition to alcaptonuria he described cystinunia, pentosuria, and albinism. This work was the forerunner of the classic studies of Beadle and Tatum on mutants of Neurospora crassa which led to the one gene-one enzyme concept. DETECTION Different groups require special attention: the family at risk because of previously affected individuals, those with unusual features suggestive of metabolic disorders, and sick newborns. Screening of normal newborns requires a different approach.

scholarly journals 1275 NEW ROLE OF COMPUTERIZED TOMOGRAPHY IN THE ASSESSMENT OF INBORN ERRORS OF METABOLISM

1985 ◽  
Vol 19 (4) ◽  
pp. 323A-323A
Author(s):  
Chester B Whitley ◽  
Deborah Day ◽  
Kathyrn L Pelant ◽  
William Krivit
Keyword(s):  
Computerized Tomography ◽  
Inborn Errors Of Metabolism ◽  
Inborn Errors

The role of the Human Metabolome Database in inborn errors of metabolism

2018 ◽  
Vol 41 (3) ◽  
pp. 329-336 ◽  
Author(s):  
Rupasri Mandal ◽  
Danuta Chamot ◽  
David S. Wishart
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Inborn Errors

Screening Urine of 3-Week-Old Newborns: Lack of Association Between Sudden Infant Death Syndrome and Some Metabolic Disorders

PEDIATRICS ◽  
1993 ◽  
Vol 91 (5) ◽  
pp. 986-988
Author(s):  
BERNARD LEMIEUX ◽  
ROBERT GIGUERE ◽  
DENIS CYR ◽  
DENIS SHAPCOTT ◽  
MARK MCCANN ◽  
...  
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Free Amino ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Inborn Errors ◽  
Mcad Deficiency ◽  
Single Subjects

The only genetic metabolic disorder clearly linked thus far to sudden infant death syndrome (SIDS) is medium-chain acylcoenzyme A dehydrogenase (MCAD) deficiency. There has been no evidence for an association between SIDS and other hereditary metabolic disorders. A few studies, which were often carried out retrospectively on single subjects, have involved the measurement of various metabolites including organic acids, carnitine, free amino acids, and the enzymes implicated in the oxidation of fatty acids, and these have not linked SIDS to inborn errors of metabolism. The study of Harpey et al1 reported that 15% of SIDS infants have a fatty acid β-oxidation defect.

Metabolic Disorders Presenting with Seizures in the Neonatal Period

2020 ◽  
Vol 40 (02) ◽  
pp. 219-235
Author(s):  
Elise Brimble ◽  
Maura R.Z. Ruzhnikov
Keyword(s):  
Metabolic Disorders ◽  
Neonatal Period ◽  
Treatment Options ◽  
Genetic Diagnosis ◽  
Specific Treatment ◽  
Signs And Symptoms ◽  
Inborn Errors ◽  
Pediatric Neurologist ◽  
Diagnostic Framework

AbstractMetabolic disorders represent rare but often treatable causes of seizures and epilepsy of neonatal onset. As seizures are relatively common in the neonatal period, systemic clues to a specific diagnosis may be lacking or shrouded by acute illness. An important role of the consulting pediatric neurologist is to identify neonates with a possible metabolic or otherwise genetic diagnosis. In this review, the authors describe presenting signs and symptoms, a diagnostic framework, and disorder-specific treatment options for inborn errors of metabolism that may present in the neonatal period. Specific attention is given to the neurologic aspects of each condition, including the electroclinical phenotype and findings on brain imaging. As expedited diagnosis and prompt initiation of available therapies have been demonstrated to result in improved epilepsy and developmental outcomes, this work acts as a framework to guide evaluation when an inherited metabolic disorder is suspected. In addition to informing treatment, a definitive diagnosis allows for appropriate counseling regarding prognosis, any associated screening or preventive measures, and family planning.

PHENYLKETONURIA: A STUDY OF HUMAN BIOCHEMICAL GENETICS

PEDIATRICS ◽  
1966 ◽  
Vol 38 (2) ◽  
pp. 173-184
Author(s):  
David Yi-Yung Hsia
Keyword(s):  
Royal College ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Vital Role ◽  
Biochemical Genetics ◽  
Inborn Errors ◽  
Research Fellow ◽  
Johnson Company

ONE of the privileges extended to me upon receiving the E. Mead Johnson Award is to have an opportunity to express in public my gratitude to the several teachers who have contributed so heavily to my development. First and foremost, I want to thank Dr. Sydney Gellis, who first took me on as a research fellow, subsequently fired in me an excitement and enthusiasm for research, and has remained through the years a loyal friend and colleague. Next, I want to thank Dr. Charles Janeway who had the vision of urging me to become interested in the then embryonic field of "inborn errors of metabolism." In the pursuit of this interest, I want to thank Dr. Eugene Knox for teaching me the biochemistry and Professor Lionel Penrose for teaching me the genetics which subsequently led to the work on phenylketonuria. Finally, the late Dr. John Bigler and Dr. Robert Lawson gave me the encouragement and the freedom to pursue these studies in Chicago. On this occasion I would also like to express my appreciation to the Mead Johnson Company for having provided me with my first fellowship, which permitted me to go into research, and also for having manufactured the product which has played such a vital role in our understanding of phenylketonuria. The concept of "inborn errors of metabolism" was first suggested by Sir Archibald Garrod in 1908. In the Croonian Lectures delivered at the Royal College of Physicians, he suggested that four metabolic disorders—albinism, alkaptonuria, cystinuria, and pentosuria—had certain features in common.

The Role of L-Carnitine in Pediatric Cardiomyopathy

1995 ◽  
Vol 10 (2_suppl) ◽  
pp. 2S45-2S51 ◽  
Author(s):  
Susan Winter ◽  
Kenneth Jue ◽  
James Prochazka ◽  
Paul Francis ◽  
Wade Hamilton ◽  
...  
Keyword(s):  
Energy Production ◽  
Inborn Errors Of Metabolism ◽  
Genetic Factors ◽  
Myocardial Dysfunction ◽  
Essential Element ◽  
Carnitine Deficiency ◽  
Inborn Errors ◽  
Pediatric Cardiomyopathy ◽  
Traditional Therapies

Metabolic and genetic factors underlie some forms of cardiomyopathy in childhood. A variety of inborn errors of metabolism can impair mitochondrial energy production, or β-oxidation, in the heart and lead to myocardial dysfunction. L-Carnitine, an essential element of β-oxidation, transports fatty acids across the mitochondrial membrane for energy production. L-Carnitine deficiency syndromes are now well described as secondary to a variety of inborn errors of metabolism and often include cardiomyopathy in the clinical picture. Despite traditional therapies for cardiomyopathy, mortality for this disorder remains at well over 50%. Review of reports of L-carnitine supplementation studies and results from our own trial underscore the importance of its role in cardiac function and demonstrates that there is likely a subpopulation of patients with cardiomyopathy responsive to L-carnitine treatment. (J Child Neurol 1995; 10(Suppl):2S45-2S5 1).

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