scholarly journals Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases

JIMD Reports ◽  
2021 ◽  
Author(s):  
Malak A. Alghamdi ◽  
Mohammed Tohary ◽  
Hamad Alzaidan ◽  
Faiqa Imtiaz ◽  
Zuhair N. Al‐Hassnan
Keyword(s):  
Clinical Variability ◽  
Coa Transferase ◽  
Transferase Deficiency

scholarly journals A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene

2017 ◽  
Vol 07 (01) ◽  
pp. 062-066
Author(s):  
Daniel Zheng ◽  
Michael Hooper ◽  
Michele Spencer-Manzon ◽  
Richard Pierce
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Inborn Errors Of Metabolism ◽  
Neonatal Period ◽  
Pediatric Intensive Care ◽  
Inborn Errors ◽  
Early Management ◽  
Coa Transferase ◽  
Transferase Deficiency ◽  
High Index Of Suspicion

AbstractWe describe a case of succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency in an otherwise healthy 14 month-old female. She presented with lethargy, tachypnea, and hyperpnea with hypoglycemia and a severe anion gap metabolic acidosis. Early management included correction of the acidosis and metabolic support with dextrose and insulin. Inborn errors of metabolism are rare outside the neonatal period. However, SCOT deficiency may present at older ages. Maintaining a high index of suspicion, immediate transfer to a pediatric intensive care unit, and prompt metabolic support are key to achieving a favorable outcome.

scholarly journals A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis

2016 ◽  
Vol 4 ◽  
pp. 232640981665128 ◽  
Author(s):  
Sahin Erdol ◽  
Mehmet Ture ◽  
Tahsin Yakut ◽  
Halil Saglam ◽  
Hideo Sasai ◽  
...  
Keyword(s):  
Diabetic Ketoacidosis ◽  
Turkish Patient ◽  
Coa Transferase ◽  
Transferase Deficiency

A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency

1995 ◽  
Vol 18 (3) ◽  
pp. 323-325 ◽  
Author(s):  
H. Sakazaki ◽  
K. Hirayama ◽  
S. Murakami ◽  
S. Yonezawa ◽  
H. Shintaku ◽  
...  
Keyword(s):  
Japanese Case ◽  
Coa Transferase ◽  
Transferase Deficiency

Carnitine palmityl transferase deficiency: Clinical variability, carrier detection, and autosomal-recessive inheritance

Neurology ◽  
1981 ◽  
Vol 31 (7) ◽  
pp. 883-883 ◽  
Author(s):  
C. Angelini ◽  
L. Freddo ◽  
P. Battistella ◽  
N. Bresolin ◽  
S. Pierobon-Bormioli ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Carrier Detection ◽  
Recessive Inheritance ◽  
Clinical Variability ◽  
Transferase Deficiency

Succinyl-CoA:3-Ketoacid CoA-Transferase Deficiency

PEDIATRICS ◽  
1998 ◽  
Vol 101 (4) ◽  
pp. 709-711 ◽  
Author(s):  
Selma E. Snyderman ◽  
Claude Sansaricq ◽  
Bruce Middleton
Keyword(s):  
Coa Transferase ◽  
Transferase Deficiency

scholarly journals Succinyl-CoA: 3-Ketoacid CoA-Transferase Deficiency in a Saudi Girl

2021 ◽  
Vol 8 (4) ◽  
pp. 294-297
Author(s):  
Maha Alotaibi
Keyword(s):  
Genetic Analysis ◽  
Genetic Disorder ◽  
Febrile Illness ◽  
First Episode ◽  
Severe Metabolic Acidosis ◽  
Coa Transferase ◽  
Organic Acid Profile ◽  
Urine Organic Acid ◽  
Life Threatening ◽  
Transferase Deficiency

Objective: Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare genetic disorder of ketone utilization and isoleucine catabolism caused by mutations in the OXCT1 gene, Case: A Saudi girl case of SCOT deficiency confirmed by genetic analysis has been reported in this study. A 5-year-old girl presented to the emergency with the first episode of severe metabolic ketoacidosis after a febrile illness. On admission, she was drowsy lethargic, and severely dehydrated needs to admit in a highly dependent area. Initial investigations were done during the crisis showed refractory severe metabolic acidosis (pH of 7.18, HCO3- of 7.4 mmol/L), normal ammonia, lactic acidosis, and urine organic acid profile revealed elevations in 3-hydroxybutyrate and acetoacetate. Genetic analysis was done by CentoMito Comprehensive (Large extended screening panel), sequencing of OXCT1 gene revealed that the proband is homozygous for the missense likely pathogenic variant c.1402C>T p.(Arg468Cys) confirming the diagnosis of SCOT deficiency. Conclusion: This is the first Saudi child with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency case report as searched in the literature. This case highlights the importance of suspecting SCOT deficiency in the differential diagnosis of pediatric metabolic ketoacidosis in preventing life-threatening of severe Metabolic ketoacidosis

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