scholarly journals When to Consider an Inborn Error of Metabolism in Adults?

2021 ◽  
Vol 11 (3-4) ◽  
pp. 65-68
Author(s):  
Martijn C.G.J. Brouwers
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism

Early Prenatal Diagnosis of Inborn Error of Metabolism: A Case Report of a Fetus Affected with Fabry's Disease

2010 ◽  
Vol 11 (1) ◽  
pp. 39-45 ◽  
Author(s):  
Osamu Tsutsumi ◽  
Masahito Sato ◽  
Kodo Sato ◽  
Kazuo Sato ◽  
Masahiko Mizuno ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Fabry’S Disease ◽  
Fabry's Disease

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

Be aware of the inborn error of metabolism

2014 ◽  
Vol 47 (9) ◽  
pp. 765
Author(s):  
S. Aksun
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism

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.

Tyrosinemia Type 1- A Rare Inborn Error of Metabolism

2021 ◽  
Vol 09 (08) ◽  
Author(s):  
Dr Akshay Wanvat ◽  
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
Tyrosinemia Type 1 ◽  
Rare Inborn Error

Peptiduria Presumably Caused by Aminopeptidase-P Deficiency. A New Inborn Error of Metabolism

1988 ◽  
pp. 240-242
Author(s):  
N. Blau ◽  
A. Niederwieser ◽  
D. H. Shmerling
Keyword(s):  
Inborn Error ◽  
Inborn Error Of Metabolism ◽  
P Deficiency ◽  
Aminopeptidase P
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