Genetical theory and the "inborn errors of metabolism".
BMJPublished 7 February 1970Open access
H. Harris
Citations17
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
The central idea is that the primary sequence of amino-acids in each of the distinctive polypeptide chains that may occur in an enzyme or protein is coded in the sequence of purine and pyramidine bases in the deoxyribonucleic acid (D.N.A.) of a corresponding gene.
Keywords
Biochemistry, Genetics and Molecular Biology
Nutrition ReviewsProceedings of the National Academy of Sciences of the United States of America
17,978 Citations2009John E. Dowling, George Wald
This dissertation aims to provide a history of web exceptionalism from 1989 to 2002, a period chosen in order to explore its roots as well as specific cases up to and including the year in which descriptions of “Web 2.0” began to circulate.
American Journal of Physical AnthropologyAmerican Journal of Physical Anthropology
2,702 Citations2006Chapman, Michael
The American Journal of MedicineA familial disorder of uric acid metabolism and central nervous system function
1,453 Citations1964Michael Lesch, William L. Nyhan
The daily excretion of uric acid in the urine was considerably higher than those of control patients and approximated total values found in gouty adult "hyperexcretors."
ScienceEnzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis
1,243 Citations1967J. Edwin Seegmiller, Frederick M. Rosenbloom +1 more
This work has demonstrated the first relationship between a specific enzyme defect and abnormal compulsive behavior in a neurological disease and the production of excessive uric acid in this disorder implies that the enzyme is involved in the normal regulation of purine biosynthesis.
NatureMolecular Pathology of Human Haemoglobin
580 Citations1968M. F. Perutz, H. Lehmann
The haemoglobin molecule is insensitive to replacements of most amino-acid residues on its surface, but extremely sensitive to even quite small alterations of internal non-polar contacts, especially those near the haems.
Proceedings of the National Academy of SciencesA specific enzyme defect in gout associated with overproduction of uric acid.
478 Citations1967William N. Kelley, F M Rosenbloom +2 more
A partial loss of HGPRT activity is associated with excessive purine synthesis in some of these gouty patients, and this study shows that a derangement in some aspect of the regulation of purines synthesis had been proposed.
Archives of Disease in ChildhoodMethylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis.
331 Citations1967V. G. Oberholzer, B. Levin +2 more
Two unrelated cases of a new syndrome are now described with a congenital metabolic acidosis resulting from a block in the conversion of methylmalonic acid to succinic acid, and preliminary investigations to elucidate the metabolic defect are presented.
Journal of Clinical InvestigationIn vivo lability of glucose-6-phosphate dehydrogenase in GdA- and Gdmediterranean deficiency
189 Citations1968Sergio Piomelli, Laurence Corash +3 more
The data suggest that the glucose-6-phosphate dehydrogenase deficiency of both the Gd(A-) and theGdMediterranean variant results from different degrees of in vivo instability of the abnormal enzyme.
New England Journal of MedicineMethylmalonic Aciduria
131 Citations1968León E. Rosenberg, Anne-Ch. Lilljeqvist +1 more
Proceedings of the National Academy of SciencesCONGENITAL METHYLMALONIC ACIDEMIA: ENZYMATIC EVIDENCE FOR TWO FORMS OF THE DISEASE
106 Citations1969Grant Morrow, Lewis A. Barness +3 more
It has been found that methylmalonylCoA carbonylmutase activity is essentially absent in the livers of patients suffering from one variant (vitamin B(12)-unresponsive) of the disease, and enzyme studies fully support the clinical observations that two types of this disease exist.
Proceedings of the National Academy of SciencesARGININOSUCCINATE SYNTHETASE ACTIVITY AND CITRULLINE METABOLISM IN CELLS CULTURED FROM A CITRULLINEMIC SUBJECT
102 Citations1967Thomas A. Tedesco, William J. Mellman
These findings provide evidence for the genetic nature of this human disorder by comparing the growth requirements and the properties of argininosucciinate synthetase in normal human cells and cells cultured from the skin of an infant vith citrullinernia.
ScienceNegro Variant of Glucose-6-Phosphate Dehydrogenase Deficiency (A <sup>-</sup> ) in Man
99 Citations1967Akira Yoshida, Arno G. Motulsky
Quantitative immunologic neutralization tests indicated that the A- enzyme had about the same enzymatic and serological activity as the A+ and the normal (B+) enzymes.
British Medical BulletinENZYME AND PROTEIN POLYMORPHISM IN HUMAN POPULATIONS
84 Citations1969Harry Harris
Journal of Clinical InvestigationAn inherited molecular lesion of erythrocyte pyruvate kinase
81 Citations1968Donald E. Paglia, William N. Valentine +4 more
A revision of the PK assay technique is suggested, since catalytic inefficiency of PK(2) was manifested only at low substrate concentrations and was therefore undetectable at the relatively high phosphoenolpyruvate levels employed in the conventional assay.
The LancetPHENYLALANINE-HYDROXYLASE ACTIVITY IN HYPERPHENYLALANINÆMIA
80 Citations1967Parvin Justice, MargaretE. O'Flynn +1 more
Phenylalanine-hydroxylase activities have been determined in two cases of " classic " phenylketonuria and in three cases of hyperphenylalaninaemia without phenyletonuria, which may constitute a clinical variant of phenyl ketonuria.
NatureGenetics of Phenylketonuria: Heterozygosity for phenylketonuria
60 Citations1967L. I. Woolf, W. I. Cranston +1 more
The first article deals with the problem of using the response to injected phenylalanine to determine whether or not the subject is heterozygous for phenylketonuria, and the second article suggests a third allele on the phenyl ketonuria locus, the corresponding enzyme having a higher affinity for phenylonine than has the “normal” enzyme.
PubMedHereditary tyrosinemia in a French Canadian isolate.
60 Citations1969Claude Laberge
The clinical manifestations in the French Canadian patients in this study have been reviewed from 37 cases by Larochelle et al. (1967), and were infants usually between the the second and fourth month of life, presenting hepatomegaly, acute liver failure, and a secondary hemorrhagic syndrome.
American Journal of Physical AnthropologyThe founder effect and deleterious genes
33 Citations1969Frank B. Livingstone
Since deleterious recessive genes are eliminated from large populations at a very slow rate, variations in their frequencies in present major human populations may be due to the founder effect during earlier rapid expansion.
Inborn Errors of Metabolism
11 Citations2017Allison L. Goetsch, Dana Kimelman +1 more
Archibald Garrod was born in 1857, two years before Darwin’s Origin of Species and eight years before Mendel published his paper on the patterns of inheritance of dominant and recessive characters.