MGCA4
MCID: 3MT019
MIFTS: 36
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3-Methylglutaconic Aciduria, Type Iv (MGCA4)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for 3-Methylglutaconic Aciduria, Type Iv:
Characteristics:Orphanet epidemiological data:58
3-methylglutaconic aciduria type 4
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases Anatomical: Eye diseases Neuronal diseases Nephrological diseases
ICD10:
33
Orphanet: 58
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 67048Definition3-methylglutaconic aciduria (3-MGA) type IV, or unclassified 3-MGA, is a clinically heterogeneous disorder characterised by increased 3-methylglutaconic acid excretion in individuals that cannot be classified as having one of the other forms of 3-MGA (3-MGA I, II or III).EpidemiologyThe prevalence of this disorder is unknown.Clinical descriptionPatients usually present during the first year of life with neurological findings including psychomotor retardation, hypotonia, developmental delay, seizures and progressive spasticity, together with severe failure to thrive. Cardiomyopathy, hepatic dysfunction, eye anomalies, microcephaly, deafness, dysmorphism, neonatal hypoglycaemia, thrombocytopaenia and lactic acidosis have also been reported. Cerebellar dysgenesis may be revealed by magnetic resonance imaging. In contrast, a small number of asymptomatic patients have been diagnosed as having 3-MGA type IV.EtiologyThe aetiology remains unknown: unlike patients with 3-MGA type I, individuals with 3MGA type IV display normal 3-methylglutaconyl-CoA hydratase activity in cultured fibroblasts. Mitochondrial respiratory chain abnormalities have been detected in some 3MGA type IV patients but the clinical heterogeneity associated with this disorder suggests that the 3-methylglutaconic aciduria seen in 3-MGA type IV patients may result from a variety of causes and genetic factors.Diagnostic methods3-methylglutaconic aciduria can be diagnosed by analysis of urinary organic acid excretion but specific diagnosis of 3-MGA type IV requires exclusion of all other forms of 3-MGA. As the genetic factors responsible for the other forms of 3-MGA have now been determined, molecular analysis provides a valuable tool for accurate diagnosis.Differential diagnosis3-MGA type IV can be distinguished from the type I disorder by normal excretion of 3-hydroxyisovaleric acid. 3-MGA type II may be excluded by the mode of inheritance (transmission is X-linked recessive in 3-MGA type II) and on the basis of the clinical phenotype (the type II disorder is characterised by neutropaenia, skeletal myopathy, dilated cardiomyopathy and growth delay). Depending on the manifestations present, clinical differentiation of types III and IV may be more problematic, but the occurrence of 3-MGA type III is largely restricted to the Iraqi-Jewish population. In addition to other forms of 3-MGA, the differential diagnosis should also include cerebral palsy, dilated cardiomyopathy with ataxia (see this term) and other organic acidurias.Genetic counselingThe disorder has been reported to be inherited as an autosomal recessive trait.Management and treatmentAt present there is no effective treatment for 3-MGA type IV and a leucine-restricted diet appears to be of no benefit.PrognosisThe prognosis depends on the clinical phenotype but the neurological complications can be severe with a potentially fatal disease course.Visit the Orphanet disease page for more resources.
MalaCards based summary : 3-Methylglutaconic Aciduria, Type Iv, also known as 3-methylglutaconic aciduria type 4, is related to 3-methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome and 3-methylglutaconic aciduria. An important gene associated with 3-Methylglutaconic Aciduria, Type Iv is SERAC1 (Serine Active Site Containing 1), and among its related pathways/superpathways are Lysosome and TBC/RABGAPs. Affiliated tissues include eye and liver, and related phenotypes are intellectual disability and spasticity Disease Ontology : 12 A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. OMIM® : 57 The category of 3-methylglutaconic aciduria type IV (MGCA4) represents a heterogeneous unclassified group of patients who share mild or intermittent urinary excretion of 3-methylglutaconic acid. MGCA excretion is a nonspecific finding observed in many other disorders caused by defects in mitochondrial energy metabolism (Gunay-Aygun, 2005). For a general phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA1 (250950) (250951) (Updated 05-Mar-2021) |
Human phenotypes related to 3-Methylglutaconic Aciduria, Type Iv:58 31 (show all 30)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:250951 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to 3-Methylglutaconic Aciduria, Type Iv:40
Eye,
Liver
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Articles related to 3-Methylglutaconic Aciduria, Type Iv:
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for disease gene expression data for 3-Methylglutaconic Aciduria, Type Iv.
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Cellular components related to 3-Methylglutaconic Aciduria, Type Iv according to GeneCards Suite gene sharing:
Biological processes related to 3-Methylglutaconic Aciduria, Type Iv according to GeneCards Suite gene sharing:
Molecular functions related to 3-Methylglutaconic Aciduria, Type Iv according to GeneCards Suite gene sharing:
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