scholarly journals Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.

1990 ◽  
Vol 86 (3) ◽  
pp. 1000-1003 ◽  
Author(s):  
I Yokota ◽  
Y Indo ◽  
P M Coates ◽  
K Tanaka
Keyword(s):  
Molecular Basis ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Mature Protein ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A ◽  
Prevalent Mutation

A fatal neonatal case of medium-chain acyl-coenzyme a dehydrogenase deficiency with homozygous A→G985 transition

1992 ◽  
Vol 121 (6) ◽  
pp. 965-968 ◽  
Author(s):  
Kin-Chuen Leung ◽  
Judith W. Hammond ◽  
Shilpi Chabra ◽  
Kevin H. Carpenter ◽  
Mary Potter ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome

1993 ◽  
Vol 122 (5) ◽  
pp. 715-718 ◽  
Author(s):  
Raanan Arens ◽  
David Gozal ◽  
Karen Jain ◽  
Shamshad Muscati ◽  
Eva T. Heuser ◽  
...  
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Infant Death ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

Familial Reye-Like Syndrome: A Presentation of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

PEDIATRICS ◽  
1987 ◽  
Vol 79 (3) ◽  
pp. 382-385
Author(s):  
Bruce Taubman ◽  
Daniel E. Hale ◽  
Richard I. Kelley
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Term Therapy ◽  
Reye Syndrome ◽  
Medium Chain ◽  
Chain Acyl ◽  
History Of ◽  
Acyl Coenzyme A ◽  
Long Term Therapy

A 20-month-old girl with a family history of two siblings who died of an encephalopathy diagnosed as Reye syndrome presented to an emergency room in hypoglycemic coma and was found to have medium-chain acyl-coenzyme A dehydrogenase deficiency. The salient clinical and biochemical features of this newly described inborn error of fatty acid metabolism are described and contrasted to those of classical Reye syndrome. Important clues that should lead the clinician to suspect this disorder, methods of diagnosis, and appropriate acute and long-term therapy are also discussed.

Medium Chain Acyl–Coenzyme A Dehydrogenase Deficiency in a Neonate

2007 ◽  
Vol 357 (17) ◽  
pp. 1781-1781 ◽  
Author(s):  
Gregory Rice ◽  
Thomas Brazelton ◽  
Kathleen Maginot ◽  
Shardha Srinivasan ◽  
Gregory Hollman ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
CuiLi Liang ◽  
MinYan Jiang ◽  
HuiYing Sheng ◽  
YanNa Cai ◽  
DongYan Wu ◽  
...  
Keyword(s):  
Case Report ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
First Case ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Acyl Coenzyme A

AbstractMedium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an autosomal recessive inborn error of mitochondrial fatty acid β-oxidation, caused by mutations in the

scholarly journals 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative

2016 ◽  
Vol 119 (1-2) ◽  
pp. 75-82 ◽  
Author(s):  
Kristi Bentler ◽  
Shaohui Zhai ◽  
Sara A. Elsbecker ◽  
Georgianne L. Arnold ◽  
Barbara K. Burton ◽  
...  
Keyword(s):  
Inborn Errors Of Metabolism ◽  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Inborn Errors ◽  
Medium Chain ◽  
Chain Acyl ◽  
Acyl Coenzyme A

Effect of treatment with glycine and l-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency

1993 ◽  
Vol 122 (4) ◽  
pp. 580-584 ◽  
Author(s):  
Piero Rinaldo ◽  
Eberhard Schmidt-Sommerfeld ◽  
Anthony P. Posca ◽  
Simon J.R. Heales ◽  
David A. Woolf ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Coenzyme A ◽  
Medium Chain ◽  
Chain Acyl ◽  
Effect Of Treatment ◽  
Acyl Coenzyme A
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