scholarly journals Malonic aciduria

2020 ◽  
Author(s):  
Keyword(s):  
Malonic Aciduria

The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3)

2020 ◽  
pp. 42-44
Author(s):  
William L. Nyhan ◽  
Georg F. Hoffmann ◽  
Aida I. Al-Aqeel ◽  
Bruce A. Barshop
Keyword(s):  
Malonic Aciduria

Fatal neonatal malonic aciduria

1998 ◽  
Vol 21 (1) ◽  
pp. 76-77 ◽  
Author(s):  
B. Buyukgebiz ◽  
C. Jakobs ◽  
H.R. Scholte ◽  
J. G. M. Huijmans ◽  
W. J. Kleijer
Keyword(s):  
Malonic Aciduria

Sani-Cloth Wipe Mimics Rare Enzyme Deficiency Malonic Aciduria on Newborn Screen

PEDIATRICS ◽  
2012 ◽  
Vol 130 (5) ◽  
pp. e1363-e1368 ◽  
Author(s):  
B. A. Reindl ◽  
D. W. Lynch ◽  
M. Ramirez ◽  
M. Valbracht ◽  
L. Davis-Keppen ◽  
...  
Keyword(s):  
Enzyme Deficiency ◽  
Newborn Screen ◽  
Malonic Aciduria

scholarly journals Methylmalonic and malonic aciduria in a dog with progressive encephalomyelopathy

1996 ◽  
Vol 11 (3) ◽  
pp. 239-247 ◽  
Author(s):  
Michael Podell ◽  
G. Diane Shelton ◽  
William L. Nyhan ◽  
Susan O. Wagner ◽  
Anne Genders ◽  
...  
Keyword(s):  
Malonic Aciduria

Malonyl coenzyme A decarboxylase deficiency with a novel mutation

2021 ◽  
pp. 1-3
Author(s):  
Cigdem S. Kasapkara ◽  
Burcu Civelek Ürey ◽  
Ahmet C. Ceylan ◽  
Özlem Ünal Uzun ◽  
Ibrahim İ. Çetin
Keyword(s):  
De Novo ◽  
Novel Mutation ◽  
Point Mutations ◽  
Acid Synthesis ◽  
Acetyl Coa Carboxylase ◽  
Acetyl Coa ◽  
Metabolic Intermediate ◽  
Malonyl Coa ◽  
Novel Variant ◽  
Malonic Aciduria

Abstract Malonyl-CoA, a product of acetyl-CoA carboxylase is a metabolic intermediate in lipogenic tissues that include liver and adipose tissue, where it is involved in the de novo fatty acid synthesis and elongation. Malonyl-CoA decarboxylase (MLYCD, E.C.4.1.1.9), a 55-kDa enzyme catalyses the conversion of malonyl-CoA to acetyl-CoA and carbon dioxide, thus providing a route for disposal of malonyl-CoA from mitochondria and peroxisomes, whereas in the cytosol, the malonyl-CoA pool is regulated by the balance of MLYCD and acetyl-CoA carboxylase activities. So far, 34 cases with different MLYCD gene defects comprising point mutations, stop codons, and frameshift mutations have been reported in the literature. Here, we describe the follow-up of a patient affected by malonic aciduria upon neonatal onset. Molecular analysis showed novel homozygous mutations in the MLYCD gene. Our findings expand the number of reported cases and add a novel variant to the repertoire of MLYCD mutations.

Malonic aciduria

1994 ◽  
Vol 16 ◽  
pp. 7-11 ◽  
Author(s):  
P.T. Ozand ◽  
W.L. Nyhan ◽  
A. Al Aqeel ◽  
J. Christodoulou
Keyword(s):  
Malonic Aciduria
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