scholarly journals 100 years of inherited metabolic disorders in Austria ‐ a national registry of minimal birth prevalence, diagnosis and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021

2021 ◽  
Author(s):  
G. Ramoser ◽  
F. Caferri ◽  
B. Radlinger ◽  
M. Brunner‐Krainz ◽  
S. Herbst ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
National Registry ◽  
Inborn Errors ◽  
Birth Prevalence ◽  
Inherited Metabolic Disorders

scholarly journals Screening for Inherited Metabolic Disorders: A New Look at Metabolic Screening Tests

1972 ◽  
Vol 9 (1-6) ◽  
pp. 103-108 ◽  
Author(s):  
J. W. T. Seakins ◽  
Makbule Haktan ◽  
B. C. Andrew ◽  
R. S. Ersser
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Screening Tests ◽  
Inborn Errors ◽  
Inherited Metabolic Disorders ◽  
Metabolic Screening ◽  
New Look

Simple methods for the detection of inborn errors of metabolism which result in the accumulation of metabolites in blood or urine are described and the significance of abnormal findings reviewed.

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 The Ophthalmological Manifestations of Various Inborn Errors of Metabolism: A Narrative Review

2021 ◽  
Vol 9 (2) ◽  
pp. 137-144
Author(s):  
Abdolreza Medghalchi ◽  
◽  
Afagh Hassanzadeh Rad ◽  
Setila Dalili ◽  
◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Genetic Disorders ◽  
Single Gene ◽  
Scientific Information ◽  
Narrative Review ◽  
Inborn Errors ◽  
Relevant Evidence ◽  
Ocular Manifestations ◽  
Inherited Metabolic Disorders

Context: Inborn errors of metabolism or Inherited Metabolic Disorders (IMD) are a class of genetic disorders that occur because of single-gene defects. Evidence Acquisition: In this narrative review article, the authors searched Institute for Scientific Information (ISI), Web of Science, PubMed, and Google Scholar for the relevant evidence. Results: The ocular manifestations of IMDs can be distinguished in different diseases such as Albinism, Cystinosis, Homocystinuria, and Sulfite oxidize deficiency, Mannosidosis, Fucosidosis, Sialidosis, etc. Conclusions: Due to the direct toxic mechanisms of abnormal metabolites on eyes and regarding the effect of eye monitoring on the follow-up, management, and treatment, a detailed ophthalmological assessment is essential.

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.

scholarly journals Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence

2018 ◽  
Vol 8 (2) ◽  
Author(s):  
Donald Waters ◽  
Davies Adeloye ◽  
Daisy Woolham ◽  
Elizabeth Wastnedge ◽  
Smruti Patel ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Inborn Errors ◽  
Systematic Analysis ◽  
Birth Prevalence

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.

Inborn Errors of Metabolism (Metabolic Disorders)

2016 ◽  
Vol 37 (1) ◽  
pp. 3-17 ◽  
Author(s):  
G. M. Rice ◽  
R. D. Steiner
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Metabolic Disorders ◽  
Inborn Errors

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.

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