Literature DB >> 2420598

Sarcosinaemia in a retarded, amaurotic child.

A C Sewell, M Krille, I Wilhelm.   

Abstract

A 9-month-old Turkish girl demonstrated an abnormal qualitative amino acid excretion pattern suggestive of sarcosinaemia. She was blind and had evidence of developmental and motor retardation. No other physical abnormalities were noted. Quantitative amino acid analysis revealed elevated serum and urine sarcosine levels. An oral sarcosine loading test showed an exaggerated response with a delayed conversion to glycine. Sarcosine was undetected in other family members.

Entities:  

Mesh：

Substances：

Year:  1986        PMID： 2420598     DOI： 10.1007/bf00441750

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  11 in total

1.  Hypersarcosinemia with craniostenosis-syndactylism syndrome.

Authors:  R Minami; K Olek; P Wardenbach
Journal:  Humangenetik       Date:  1975-06-19

2.  The clinical and biochemical findings in three cases of hypersarcosinemia and one case of transient hypersarcosinuria associated with folic acid deficiency.

Authors:  P Tippett; D M Danks
Journal:  Helv Paediatr Acta       Date:  1974-08

3.  Clinical and cellular studies of sarcosinemia.

Authors:  C R Scott; S H Clark; C C Teng; K R Swedberg
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

4.  Hypersarcosinemia: an inborn error of metabolism.

Authors:  T Gerritsen; H A Waisman
Journal:  N Engl J Med       Date:  1966-07-14       Impact factor: 91.245

5.  Folic acid dependent hypersarcosinaemia.

Authors:  W Blom; J Fernandes
Journal:  Clin Chim Acta       Date:  1979-01-15       Impact factor: 3.786

6.  Multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II) with transient hypersarcosinemia and sarcosinuria; possible inherited deficiency of an electron transfer flavoprotein.

Authors:  S I Goodman; E R McCabe; P V Fennessey; J W Mace
Journal:  Pediatr Res       Date:  1980-01       Impact factor: 3.756

7.  Transport and metabolism of sarcosine in hypersarcosinemic and normal phenotypes.

Authors:  F H Glorieux; C R Scriver; E Delvin; F Mohyuddin
Journal:  J Clin Invest       Date:  1971-11       Impact factor: 14.808

8.  Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II.

Authors:  N Gregersen; S Kølvraa; K Rasmussen; E Christensen; N J Brandt; F Ebbesen; F H Hansen
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982

9.  Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

Authors:  A Niederwieser; B Steinmann; U Exner; F Neuheiser; U Redweik; M Wang; S Rampini; U Wendel
Journal:  Helv Paediatr Acta       Date:  1983-03

10.  Massachusetts Metabolic Disorders Screening Program: III. Sarcosinemia.

Authors:  H L Levy; J T Coulombe; R Benjamin
Journal:  Pediatrics       Date:  1984-10       Impact factor: 7.124
View more
  1 in total

1.  Sarcosinaemia in a patient with Usher syndrome.

Authors:  E Christensen; N J Brandt; T Rosenberg
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.