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

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

63. Organic Aciduria Accompanying Imerslundʼs Syndrome (Congenital Malabsorption of Vitamin B12)

1969 ◽  
Vol 62 (12) ◽  
pp. 1556
Author(s):  
Joseph G. Hollowell ◽  
James C. McPherson ◽  
Dorothy A. Hahn
Keyword(s):  
Vitamin B12 ◽  
Organic Aciduria

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

Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency

1985 ◽  
Vol 8 (S2) ◽  
pp. 105-106 ◽  
Author(s):  
C. Erasmus ◽  
L. J. Mienie ◽  
C. J. Reinecke ◽  
S. K. Wadman
Keyword(s):  
Late Onset ◽  
Organic Aciduria ◽  
Multiple Carboxylase Deficiency

Acrodermatitis-Like Syndrome in Organic Aciduria

PEDIATRICS ◽  
1994 ◽  
Vol 93 (3) ◽  
pp. 537-537
Author(s):  
U. Blecker ◽  
Y. Vandenplas ◽  
L. De Meirleir ◽  
L. De Raeve ◽  
J. Ramet
Keyword(s):  
Vitamin B12 ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Methylmalonic Aciduria ◽  
Organic Aciduria ◽  
Asymptomatic Patients ◽  
High Doses

Methylmalonic aciduria (MMA) is an autosomal recessive in-born error of metabolism with a variation in the severity of the clinical manifestations, ranging from asymptomatic patients to fulminating neonatal forms causing severe ketosis, acidosis, hyperammonemia, pancytopenia, coma, and death. Severe cases can be treated with high doses of vitamin B12 and a diet low in proteins. We describe an exceptional manifestation of MMA. A 14-month-old boy with a neonatal manifestation of MMA was admitted during an intercurrent infection with ketoacidosis and hypoglycemia.

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.

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