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Acidurias: 3-methylglutaconic
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Increased urinary excretion of 3-methylglutaconic acid is frequently observed when searching for a metabolic abnormality in children.
The differential diagnosis is based on the concentration of 3-methylglutaconic acid, the presence of other acids in abnormally high quantities and the patient's clinical presentation.
A summary of the possible etiologies is presented in the table:
|
physiopathology |
denomination |
synonyme |
transmission |
clinic |
MIM |
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primary MGCA |
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3-méthylglutaconyl-
mutation of AUH (9q22.31) |
MGCA type 1 |
AR |
encephalopathy spasticity |
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secondary MGCA |
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phospholipidic metabolism |
Barth disease mutation ofTAFAZZIN (Xq28) |
MGCA type 2 |
X |
(cardio) myopathy, neutropenia, |
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Costeff mutation of OPA3 (19q13.32) |
MGCA type 3 |
AR |
ataxia, optic atrophy, spastic paraplegia |
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mitochondrial disease |
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weak or intermittent aciduria. |
MGCA type 4 |
AR |
progressive neurologic degradation |
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DCMA mutation of DNAJC19 (3q26) |
MGCA type 5 |
AR |
dilated cardiomyopathy, cerebellar ataxia,
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MEGDEL mutation of SERAC1 (6q25) |
MGCA type 6 |
AR |
Dystonia, spasticity, hypercholesterolemia, deafness, hepatopathy, Leigh-like |
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mutation of CLPB (11q13.4) |
MGCA type 7A |
AD |
cataracts, neutropenia, neurologic problems |
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mutation of CLPB (11q13.4) |
MGCA type 7B |
AR |
cataracts, neutropenia, neurologic problems |
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mutation of HTRA2 (2p13.1) |
MGCA type 8 |
AR |
hypotonia, dystonia,
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mutation of TIMM50 (19q13.2) |
MGCA type 9 |
AR |
severe psychomotor retardation, hypotonia, spasticity, convulsions |
Updated: January 2025