Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism

1981 ◽  
Vol 111 (2-3) ◽  
pp. 169-178 ◽  
Author(s):  
Cornelis Jakobs ◽  
Monika Bojasch ◽  
Eberhard Mönch ◽  
Dietz Rating ◽  
Hartmut Siemes ◽  
...  
Keyword(s):  
Urinary Excretion ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Hydroxybutyric Acid ◽  
Neurological Abnormalities

BETA-METHYLCROTONYL-CoA CARBOXYLASE DEFICIENCY: A NEW METABOLIC ERROR IN LEUCINE DEGRADATION

PEDIATRICS ◽  
1972 ◽  
Vol 49 (5) ◽  
pp. 726-735 ◽  
Author(s):  
Oddvar Stokke ◽  
Lorentz Eldjarn ◽  
Egil Jellum ◽  
Helene Pande ◽  
Per Erik Waaler
Keyword(s):  
Urinary Excretion ◽  
Inborn Error ◽  
Clinical Course ◽  
Degradation Pathway ◽  
Neurological Symptoms ◽  
Inborn Error Of Metabolism ◽  
Minimum Requirement ◽  
Leucine Metabolism ◽  
Daily Excretion

A new inborn error of metabolism, characterized by urinary excretion of substantial amounts of β-hydroxyisovaleric acid and β-methylcrotonylglycine, is described. The disorder is most likely due to a defect in the biotin-dependent enzyme β-methylcrotonyl-CoA carboxylase in the leucine degradation pathway. The patient, a 4½-month-old girl, suffered from neurological symptoms similar to those of Werdnig-Hoffmann's disease. No episodes of acidosis could be detected. In periods the urine had a peculiar odor, like that of cat's urine. Relatively large doses of biotin (0.25 mg/day) did not influence the condition. On a diet containing the minimum requirement of leucine, the daily excretion of β-hydroxyisovaleric acid dropped from 400 mg to about 50 mg and β-methylcrotonylglycine from 100 mg to 50 mg. However, the clinical course was unaltered and the patient died at 9 months of age from bronchopneumonia. Biochemically, as well as clinically, the findings are distinctly different from previously described errors in the leucine metabolism.

AN INBORN ERROR OF METABOLISM WITH URINARY EXCRETION OF HYDROXYACIDS, KETOACIDS, AND AMINOACIDS

The Lancet ◽  
1958 ◽  
Vol 272 (7060) ◽  
pp. 1334-1335 ◽  
Author(s):  
JohnB. Jepson ◽  
AlanJ. Smith ◽  
LeonardB. Strang
Keyword(s):  
Urinary Excretion ◽  
Inborn Error ◽  
Inborn Error Of Metabolism

Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism

2019 ◽  
Vol 56 (1) ◽  
pp. e5-e8 ◽  
Author(s):  
Erin E. Bennett ◽  
Kevin Hummel ◽  
Andrew G. Smith ◽  
Nicola Longo
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Acute Presentation
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