3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis

3‐Methylglutaconyl‐CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3‐methylglutaconate, with or without 3‐hydroxyisovalerate and 3‐methylglutarate. It is an ultra‐rare condition, with

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Bibliographic Details
Published in:JIMD reports 2022-11, Vol.63 (6), p.568-574
Main Authors: Hertzog, Ashley, Selvanathan, Arthavan, Pandithan, Dinusha, Kim, Won‐Tae, Kava, Maina P., Boneh, Avihu, Coman, David, Tolun, Adviye Ayper, Bhattacharya, Kaustuv
Format: Article
Language:English
Subjects:
3‐Methylglutaconyl CoA hydratase deficiency
Acids
Age
Asymptomatic
Ataxia
Autism
C5OH
Case Report
Case Reports
Chromatography
Enzymes
Epidemiology
Failure to thrive
Genes
Genotype & phenotype
inborn error of metabolism
leucine catabolism
Magnetic resonance imaging
Mass spectrometry
Medical diagnosis
Medical screening
MGA1
Neutropenia
Patients
Plasma
Puberty
Scientific imaging
Urine
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Description
Summary:3‐Methylglutaconyl‐CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3‐methylglutaconate, with or without 3‐hydroxyisovalerate and 3‐methylglutarate. It is an ultra‐rare condition, with
ISSN:2192-8312
2192-8304
2192-8312
DOI:10.1002/jmd2.12332