3-Hydroxyacyl-CoA dehydrogenase (HAD) deficiency replaces short-chain hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency as well as medium- and short-chain hydroxyacyl-CoA dehydrogenase (M/SCHAD) deficiency as the consensus name of this fatty acid oxidation disorder

2007 ◽  
Vol 91 (2) ◽  
pp. 205-206 ◽  
Author(s):  
Xue-Ying He ◽  
Song-Yu Yang
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Short Chain ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder ◽  
Hydroxyacyl Coa Dehydrogenase

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A severe fatty acid oxidation disorder

1994 ◽  
Vol 153 (10) ◽  
pp. 745-750 ◽  
Author(s):  
A. C. Sewell ◽  
S. W. Bender ◽  
S. Wirth ◽  
H. Münterfering ◽  
L. Ijlist ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Dehydrogenase Deficiency ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder ◽  
Hydroxyacyl Coa Dehydrogenase ◽  
Long Chain

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose–fatty acid cycle?

2003 ◽  
Vol 31 (6) ◽  
pp. 1137-1139 ◽  
Author(s):  
S. Eaton ◽  
I. Chatziandreou ◽  
S. Krywawych ◽  
S. Pen ◽  
P.T. Clayton ◽  
...  
Keyword(s):  
Insulin Secretion ◽  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Dehydrogenase Deficiency ◽  
Short Chain ◽  
Acid Oxidation ◽  
Β Cells ◽  
Molecular Defects ◽  
Glucose Fatty Acid Cycle ◽  
Hydroxyacyl Coa Dehydrogenase

Hyperinsulinism of infancy is caused by inappropriate insulin secretion in pancreatic β-cells, even when blood glucose is low. Several molecular defects are known to cause hyperinsulinism of infancy, such as KATP channelopathies and regulatory defects of glucokinase and glutamate dehydrogenase. Although defects of fatty acid oxidation have not previously been known to cause hyperinsulinism, patients with deficiency in SCHAD (short-chain 3-hydroxyacyl-CoA dehydrogenase; an enzyme of mitochondrial β-oxidation) have hyperinsulinism. A novel link between fatty acid oxidation and insulin secretion may explain hyperinsulinism in these patients.

Medium- and Short-Chain L-3-Hydroxyl-Acetyl-Coenzyme A Deficiency: A New Identified Mutation in Four Cases

2019 ◽  
Vol 152 (Supplement_1) ◽  
pp. S9-S9
Author(s):  
Sheng Feng ◽  
Deborah Cooper ◽  
Lu Tan ◽  
Gail Meyers ◽  
Michael Bennett
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Coenzyme A ◽  
Short Chain ◽  
Acid Oxidation ◽  
Sequencing Analysis ◽  
Mitochondrial Fatty Acid Oxidation ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Unusual Phenotype

Abstract Medium- and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase (M/SCHAD, SCHAD) deficiency is a mitochondrial fatty acid oxidation disorder (FAOD). This enzyme catalyzes the penultimate step in fatty acid oxidation, the NAD+ dependent conversion of L-3-hydroxyacyl-CoA to 3-ketoacyl-CoA for medium- and short-chain acyl-CoA intermediates (C4-C12). The clinical presentations of most patients are recurrent hypoglycemia associated with hyperinsulinism. We presented four infants with C4 acyl-carnitine elevation identified by newborn screening that also showed an unusual phenotype of congenital hypotonia and gross developmental delay. Enzymatic studies confirmed the disease. Sequencing analysis of all the HADH coding exons on the four patients revealed a homozygous variant of a novel change (c.908G>T, p.Gly303Val). Western blot analysis subsequently confirmed the lack of the SCHAD protein. In addition, there is another previously reported benign variant (c.257T>C) identified in three infants. Therefore, we postulate that the HADH variant (c.908G>T) is indeed pathogenic and associated with a severe phenotype as evidenced by the cases described herein. Population screening for the c.908G>T mutation suggests this mutation to be common among Puerto Ricans. We recommend that SCHAD deficiency is included as part of the differential diagnosis of all infants with congenital hypotonia.

A Fetal Fatty-Acid Oxidation Disorder as a Cause of Liver Disease in Pregnant Women

1999 ◽  
Vol 54 (11) ◽  
pp. 679
Author(s):  
Jamal A. Ibdah ◽  
Michael J. Bennett ◽  
Piero Rinaldo ◽  
Yiwen Zhao ◽  
Beverly Gibson ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Liver Disease ◽  
Pregnant Women ◽  
Fatty Acid Oxidation ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder

scholarly journals Acyl-CoA dehydrogenase activity in the riboflavin-deficient rat. Effects of starvation

1987 ◽  
Vol 244 (2) ◽  
pp. 387-391 ◽  
Author(s):  
N S Ross ◽  
C L Hoppel
Keyword(s):  
Fatty Acid ◽  
Dehydrogenase Activity ◽  
Fatty Acid Oxidation ◽  
Specific Activity ◽  
Short Chain ◽  
Acid Oxidation ◽  
Riboflavin Deficiency ◽  
Mitochondrial Fatty Acid ◽  
Chain Acyl ◽  
Riboflavin Deficient

Riboflavin deficiency in weanling rats causes a metabolic disorder characterized by failure to oxidize fatty acids. The disorder is similar to that seen in several human diseases, some of which are responsive to pharmacological doses of riboflavin. Previous analysis of the riboflavin-deficient rat has shown that the failure of fatty acid oxidation is due to a decrease in the activity of the acyl-CoA dehydrogenases of beta-oxidation. The activity of these flavoenzymes in liver rapidly decreases when a riboflavin-deficient diet is initiated. The objectives of these experiments were to analyse the effects of starvation on liver mitochondria isolated from the riboflavin-deficient rat. Our studies show that the decreased mitochondrial fatty acid oxidation induced by riboflavin deficiency is partially reversed by starvation. The extent of this reversal is proportional to the duration of starvation. The starvation-associated increase in fatty acid oxidation is mediated by an increase in the mitochondrial short-chain acyl-CoA dehydrogenase activity. The activity of this enzyme is increased such that the ratio of short-chain acyl-CoA dehydrogenase apoenzyme to holoenzyme does not change. We conclude that short-chain acyl-CoA dehydrogenase activity is limiting for fatty acid oxidation when its activity falls below a critical point. The increased mitochondrial specific activity of short-chain acyl-CoA dehydrogenase during starvation may result from an increased availability of flavin coenzyme or an increase in enzyme catalytic efficiency.

Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement

2003 ◽  
Vol 142 (6) ◽  
pp. 684-689 ◽  
Author(s):  
Margarethe E.J. den Boer ◽  
Carlo Dionisi-Vici ◽  
Anupam Chakrapani ◽  
Anders O.J. van Thuijl ◽  
Ronald J.A. Wanders ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Protein Deficiency ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder ◽  
Neurologic Involvement ◽  
Mitochondrial Trifunctional Protein

3-Hydroxydicarboxylic and 3-ketodicarboxylic aciduria in three patients: evidence for a new defect in fatty acid oxidation at the level of 3-ketoacyl-CoA thiolase

1993 ◽  
Vol 39 (5) ◽  
pp. 897-901 ◽  
Author(s):  
M J Bennett ◽  
W G Sherwood
Keyword(s):  
Mass Spectrometry ◽  
Fatty Acid ◽  
Fatty Acid Oxidation ◽  
Mass Spectra ◽  
Gas Chromatography Mass Spectrometry ◽  
Acid Oxidation ◽  
Fatty Acid Oxidation Disorder ◽  
Urinary Organic Acids ◽  
First Time ◽  
Long Chain

Abstract Three patients presented with evidence of a fatty acid oxidation disorder. Analysis of urinary organic acids by gas chromatography/mass spectrometry demonstrated the presence of medium-chain (C6-C12) dicarboxylic, 3-hydroxydicarboxylic, and 3-ketodicarboxylic acids in all three urines. 3-Ketodicarboxylic aciduria is reported for the first time here, as are the mass spectra for 3-ketosuberic, 3-ketosebacic, and 3-ketododecanedioic acids and the oximated spectrum for 3-ketoadipic acid. The presence of 3-ketodicarboxylic acids suggests a defect at the level of a long-chain 3-ketoacyl-CoA thiolase, an enzyme for which a deficiency state has not previously been described. Our patients may represent the first cases of a long-chain thiolase defect.

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