Isovaleric acidemia

2020 ◽  
pp. 62-69
Author(s):  
William L. Nyhan ◽  
Georg F. Hoffmann ◽  
Aida I. Al-Aqeel ◽  
Bruce A. Barshop
Keyword(s):  
Isovaleric Acidemia

Isovaleric Acidemia

2014 ◽  
Author(s):  
Barry H. Davison ◽  
Joan W. Mayfield
Keyword(s):  
Isovaleric Acidemia

scholarly journals L-carnitine therapy in isovaleric acidemia.

1984 ◽  
Vol 74 (6) ◽  
pp. 2290-2295 ◽  
Author(s):  
C R Roe ◽  
D S Millington ◽  
D A Maltby ◽  
S G Kahler ◽  
T P Bohan
Keyword(s):  
Isovaleric Acidemia

The Pancytopenia of Isovaleric Acidemia

PEDIATRICS ◽  
1980 ◽  
Vol 65 (5) ◽  
pp. 1023-1027
Author(s):  
John F. Kelleher ◽  
Marc Yudkoff ◽  
Raymond Hutchinson ◽  
Charles S. August ◽  
Robert M. Cohn
Keyword(s):  
Cause Of Death ◽  
Blood Components ◽  
Isovaleric Acidemia ◽  
Severe Pancytopenia

Severe pancytopenia developed in two infants with isovaleric acidemia. Previous reports indicate these hematologic abnormalities are a leading cause of death in affected infants. Our findings suggest that the pancytopenia may be due to arrested maturation of hematopoietic precursors. Prompt transfusion of appropriate blood components prevented complications due to the hematologic abnormalities.

scholarly journals Acute Pancreatitis with Rapid Clinical Improvement in a Child with Isovaleric Acidemia

2013 ◽  
Vol 2013 ◽  
pp. 1-3 ◽  
Author(s):  
Elpis Mantadakis ◽  
Ioannis Chrysafis ◽  
Emmanouela Tsouvala ◽  
Athanassios Evangeliou ◽  
Athanassios Chatzimichael
Keyword(s):  
Acute Pancreatitis ◽  
Serum Amylase ◽  
Acute Abdominal Pain ◽  
Elevated Serum ◽  
Unknown Origin ◽  
Organic Acidemia ◽  
Abdominal Ultrasonography ◽  
Isovaleric Acidemia ◽  
Intravenous Hydration ◽  
Branched Chain

Isovaleric acidemia is a rare branched-chain organic acidemia. The authors describe a 3.5-year-old girl with isovaleric acidemia and acute abdominal pain associated with bilious emesis. Elevated serum amylase and abdominal ultrasonography demonstrating an enlarged and edematous pancreas, along with the presence of peripancreatic exudates, confirmed the presence of acute pancreatitis. The patient recovered quickly with intravenous hydration, pancreatic rest, and administration of intravenous L-carnitine. Pancreatitis should be ruled out in the context of vomiting in any patient with isovaleric acidemia. Conversely, branched-chain organic acidemias should be included in the differential diagnosis of any child with pancreatitis of unknown origin.

Organic aciduria associated with isovaleric acidemia.

1983 ◽  
Vol 29 (5) ◽  
pp. 1002-1003 ◽  
Author(s):  
S J Wysocki ◽  
N P French ◽  
A Grauaug
Keyword(s):  
Organic Aciduria ◽  
Isovaleric Acidemia

Eight novel mutations detected from eight Chinese patients with isovaleric acidemia

2019 ◽  
Vol 498 ◽  
pp. 116-121 ◽  
Author(s):  
Yanhan Li ◽  
Ming Shen ◽  
Ying Jin ◽  
Yi Liu ◽  
Lulu Kang ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Novel Mutations ◽  
Isovaleric Acidemia

Simplified Gas Chromatography of Trimethylsilyl Esters of C1 through C5 Fatty Acids in Serum and Urine

1973 ◽  
Vol 19 (9) ◽  
pp. 1006-1009 ◽  
Author(s):  
O A Mamer ◽  
B F Gibbs
Keyword(s):  
Fatty Acids ◽  
Gas Chromatography ◽  
Methylmalonic Aciduria ◽  
Isovaleric Acidemia ◽  
The Common ◽  
Serum And Urine

Abstract All the metabolically important C1 through C5 fatty acids and lactic, pyruvic and β-hydroxybutyric acids can be gas chromatographed surprisingly well on the common 2-meter 3% methylphenylsilicone (e.g., "OV-17") column when a late-eluting silylating reagent such as trimethylsilylimidazole is used. In these circumstances, the trimethylsilyl esters elute in an interval that is free of the reagent and solvent interferences usually found when the more volatile preparations are used for silylations. Use of the method is demonstrated by its application to a serum from a case of isovaleric acidemia and a urine from a case of methylmalonic aciduria.

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