Absence of hepatic molybdenum cofactor an inborn error of metabolism associated with lens dislocation

1985 ◽  
Vol 5 (3) ◽  
pp. 191-195 ◽  
Author(s):  
F.A. Beemer ◽  
M. Duran ◽  
S.K. Wadman ◽  
B.P. Cats
Keyword(s):  
Inborn Error ◽  
Molybdenum Cofactor ◽  
Inborn Error Of Metabolism ◽  
Lens Dislocation

Molybdenum Cofactor Deficiency: Another Inborn Error of Metabolism With Neonatal Onset

PEDIATRICS ◽  
1988 ◽  
Vol 82 (3) ◽  
pp. 521-521
Author(s):  
BARBARA K. BURTON
Keyword(s):  
Inborn Error ◽  
Molybdenum Cofactor ◽  
Inborn Error Of Metabolism ◽  
Inborn Errors ◽  
Oxidase Deficiency ◽  
Ectopia Lentis ◽  
Molybdenum Cofactor Deficiency ◽  
Sulfite Oxidase Deficiency ◽  
Eye Examination ◽  
Cofactor Deficiency

In Reply.— Matsuo and co-workers correctly point out that molybdenum cofactor deficiency may present in the neonatal period and, therefore, add yet another disorder to the list of inborn errors of metabolism affecting the neonate. Hypouricemia may be a clue, as noted, and ectopia lentis, as seen in isolated sulfite oxidase deficiency, is an additional important finding. The importance of a careful eye examination in infants suspected of having an inborn error of metabolism is again emphasized.

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

scholarly journals Chondroitin 4- and 6-Sulfaturia: A New Type of Inborn Error of Metabolism ?

1979 ◽  
Vol 127 (4) ◽  
pp. 327-338 ◽  
Author(s):  
SHIRO HAYASHI ◽  
ATSUSHI KIMURA ◽  
RYOICHI HOSHINO ◽  
KIYOSHI TAKAHASHI ◽  
KOICHI TSURUMI
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
New Type

Congenital Primary Hypomagnesemia, an Inborn Error of Metabolism?

1967 ◽  
Vol 56 (s177) ◽  
pp. 26-27 ◽  
Author(s):  
D. SKYBERG ◽  
J. H. STRøMME ◽  
R. NESBAKKEN ◽  
K. HARNÆS
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism

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.

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