Aminosäuren-Imbalance als pathogenetischer Faktor bei Mentalretardierung

Translated title of the contribution: Amino acid imbalance as a pathogenetic factor in mental retardation

Research output: Contribution to journalArticle

Abstract

After the introduction by Christensen of the concept of amino acid imbalance (1953), this phenomenon was more closely studied in numerous animal experiments and investigations on inherited disorders of the amino acid metabolism. Clinical findings and animal experiments are presented, contributing to the further understanding of the phenomenon, the possible pathogenetic significance of which is also discussed. In two infants with maple syrup urine disease, not only were the plasma concentrations of leucine, isoleucine and valine elevated before dietary treatment, but those of threonine, serine, proline and alanine were depressed. Feeding experiments were carried out in two apes. After oral administration of L-phenylalanine, the phenylalanine level rose to between 40 and 120 times the normal value, while the arginine, histidine and lysine concentrations decreased in the plasma. These amino acids are altered during phenylketonuria; experimental hyperphenylalaninaemia-alike phenylketonuria-leads to mental retardation in young apes (Waisman). In experimental hypertyrosinaemia in the rat, the plasma leucine and isoleucine levels fell significantly in the presence of tyrosine levels of 2.5 mg%. A further increase in the tyrosine level to 15 mg% caused the methionine concentration to rise. Hypertyrosinaemia is of practical significance in protein-rich nutrition of prematurely born babies. Considerably elevated tyrosine levels, found in cases where protein administration exceeds 5 g/kg body weight, lead to a reduction in intelligence (Menkes). Experimental hypermethioninaemia of 150 mg% in the rat caused a reduction in plasma leucine and isoleucine levels. When the methionine level rose to 102 mg%, there was a concominant rise in tyrosine concentration. This indicates that tyrosine and methionine are reciprocally influenced in that an increase in either of the two amino acids parallels the rise of the other. As amino acid imbalance is considered to be a pathogenetic factor in mental retardation, in the presence of phenylketonuria, maple syrup urine disease, and in prematurely born babies who are fed proteinrich diets, other hyperaminoacidaemias must also be integrated into this concept. In all inherited anomalies of amino acid metabolism, secondarily altered amino acids play a pathogenetic role as well as do(es) the amino acid(s) primarily concerned.

Original languageGerman
Pages (from-to)276-282
Number of pages7
JournalKlinische Wochenschrift
Volume52
Issue number6
DOIs
Publication statusPublished - Mar 1974

Fingerprint

Intellectual Disability
Phenylketonurias
Amino Acids
Tyrosine
Isoleucine
Maple Syrup Urine Disease
Tyrosinemias
Leucine
Methionine
Hominidae
Phenylalanine
Inborn Errors Amino Acid Metabolism
Valine
Threonine
Intelligence
Histidine
Proline
Alanine
Serine
Lysine

Keywords

  • Amino acid imbalance
  • Mental retardation
  • Phenylketonuria

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Aminosäuren-Imbalance als pathogenetischer Faktor bei Mentalretardierung. / Fekete, G.

In: Klinische Wochenschrift, Vol. 52, No. 6, 03.1974, p. 276-282.

Research output: Contribution to journalArticle

@article{ff59391508c64103bb17a68b4b37cba0,
title = "Aminos{\"a}uren-Imbalance als pathogenetischer Faktor bei Mentalretardierung",
abstract = "After the introduction by Christensen of the concept of amino acid imbalance (1953), this phenomenon was more closely studied in numerous animal experiments and investigations on inherited disorders of the amino acid metabolism. Clinical findings and animal experiments are presented, contributing to the further understanding of the phenomenon, the possible pathogenetic significance of which is also discussed. In two infants with maple syrup urine disease, not only were the plasma concentrations of leucine, isoleucine and valine elevated before dietary treatment, but those of threonine, serine, proline and alanine were depressed. Feeding experiments were carried out in two apes. After oral administration of L-phenylalanine, the phenylalanine level rose to between 40 and 120 times the normal value, while the arginine, histidine and lysine concentrations decreased in the plasma. These amino acids are altered during phenylketonuria; experimental hyperphenylalaninaemia-alike phenylketonuria-leads to mental retardation in young apes (Waisman). In experimental hypertyrosinaemia in the rat, the plasma leucine and isoleucine levels fell significantly in the presence of tyrosine levels of 2.5 mg{\%}. A further increase in the tyrosine level to 15 mg{\%} caused the methionine concentration to rise. Hypertyrosinaemia is of practical significance in protein-rich nutrition of prematurely born babies. Considerably elevated tyrosine levels, found in cases where protein administration exceeds 5 g/kg body weight, lead to a reduction in intelligence (Menkes). Experimental hypermethioninaemia of 150 mg{\%} in the rat caused a reduction in plasma leucine and isoleucine levels. When the methionine level rose to 102 mg{\%}, there was a concominant rise in tyrosine concentration. This indicates that tyrosine and methionine are reciprocally influenced in that an increase in either of the two amino acids parallels the rise of the other. As amino acid imbalance is considered to be a pathogenetic factor in mental retardation, in the presence of phenylketonuria, maple syrup urine disease, and in prematurely born babies who are fed proteinrich diets, other hyperaminoacidaemias must also be integrated into this concept. In all inherited anomalies of amino acid metabolism, secondarily altered amino acids play a pathogenetic role as well as do(es) the amino acid(s) primarily concerned.",
keywords = "Amino acid imbalance, Mental retardation, Phenylketonuria",
author = "G. Fekete",
year = "1974",
month = "3",
doi = "10.1007/BF01468458",
language = "German",
volume = "52",
pages = "276--282",
journal = "Journal of Molecular Medicine",
issn = "0946-2716",
publisher = "Springer Verlag",
number = "6",

}

TY - JOUR

T1 - Aminosäuren-Imbalance als pathogenetischer Faktor bei Mentalretardierung

AU - Fekete, G.

PY - 1974/3

Y1 - 1974/3

N2 - After the introduction by Christensen of the concept of amino acid imbalance (1953), this phenomenon was more closely studied in numerous animal experiments and investigations on inherited disorders of the amino acid metabolism. Clinical findings and animal experiments are presented, contributing to the further understanding of the phenomenon, the possible pathogenetic significance of which is also discussed. In two infants with maple syrup urine disease, not only were the plasma concentrations of leucine, isoleucine and valine elevated before dietary treatment, but those of threonine, serine, proline and alanine were depressed. Feeding experiments were carried out in two apes. After oral administration of L-phenylalanine, the phenylalanine level rose to between 40 and 120 times the normal value, while the arginine, histidine and lysine concentrations decreased in the plasma. These amino acids are altered during phenylketonuria; experimental hyperphenylalaninaemia-alike phenylketonuria-leads to mental retardation in young apes (Waisman). In experimental hypertyrosinaemia in the rat, the plasma leucine and isoleucine levels fell significantly in the presence of tyrosine levels of 2.5 mg%. A further increase in the tyrosine level to 15 mg% caused the methionine concentration to rise. Hypertyrosinaemia is of practical significance in protein-rich nutrition of prematurely born babies. Considerably elevated tyrosine levels, found in cases where protein administration exceeds 5 g/kg body weight, lead to a reduction in intelligence (Menkes). Experimental hypermethioninaemia of 150 mg% in the rat caused a reduction in plasma leucine and isoleucine levels. When the methionine level rose to 102 mg%, there was a concominant rise in tyrosine concentration. This indicates that tyrosine and methionine are reciprocally influenced in that an increase in either of the two amino acids parallels the rise of the other. As amino acid imbalance is considered to be a pathogenetic factor in mental retardation, in the presence of phenylketonuria, maple syrup urine disease, and in prematurely born babies who are fed proteinrich diets, other hyperaminoacidaemias must also be integrated into this concept. In all inherited anomalies of amino acid metabolism, secondarily altered amino acids play a pathogenetic role as well as do(es) the amino acid(s) primarily concerned.

AB - After the introduction by Christensen of the concept of amino acid imbalance (1953), this phenomenon was more closely studied in numerous animal experiments and investigations on inherited disorders of the amino acid metabolism. Clinical findings and animal experiments are presented, contributing to the further understanding of the phenomenon, the possible pathogenetic significance of which is also discussed. In two infants with maple syrup urine disease, not only were the plasma concentrations of leucine, isoleucine and valine elevated before dietary treatment, but those of threonine, serine, proline and alanine were depressed. Feeding experiments were carried out in two apes. After oral administration of L-phenylalanine, the phenylalanine level rose to between 40 and 120 times the normal value, while the arginine, histidine and lysine concentrations decreased in the plasma. These amino acids are altered during phenylketonuria; experimental hyperphenylalaninaemia-alike phenylketonuria-leads to mental retardation in young apes (Waisman). In experimental hypertyrosinaemia in the rat, the plasma leucine and isoleucine levels fell significantly in the presence of tyrosine levels of 2.5 mg%. A further increase in the tyrosine level to 15 mg% caused the methionine concentration to rise. Hypertyrosinaemia is of practical significance in protein-rich nutrition of prematurely born babies. Considerably elevated tyrosine levels, found in cases where protein administration exceeds 5 g/kg body weight, lead to a reduction in intelligence (Menkes). Experimental hypermethioninaemia of 150 mg% in the rat caused a reduction in plasma leucine and isoleucine levels. When the methionine level rose to 102 mg%, there was a concominant rise in tyrosine concentration. This indicates that tyrosine and methionine are reciprocally influenced in that an increase in either of the two amino acids parallels the rise of the other. As amino acid imbalance is considered to be a pathogenetic factor in mental retardation, in the presence of phenylketonuria, maple syrup urine disease, and in prematurely born babies who are fed proteinrich diets, other hyperaminoacidaemias must also be integrated into this concept. In all inherited anomalies of amino acid metabolism, secondarily altered amino acids play a pathogenetic role as well as do(es) the amino acid(s) primarily concerned.

KW - Amino acid imbalance

KW - Mental retardation

KW - Phenylketonuria

UR - http://www.scopus.com/inward/record.url?scp=0016393091&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0016393091&partnerID=8YFLogxK

U2 - 10.1007/BF01468458

DO - 10.1007/BF01468458

M3 - Article

C2 - 4408538

AN - SCOPUS:0016393091

VL - 52

SP - 276

EP - 282

JO - Journal of Molecular Medicine

JF - Journal of Molecular Medicine

SN - 0946-2716

IS - 6

ER -