Glutaric acidemia type 2

Source: Wikipedia, the free encyclopedia.
Glutaric acidemia type 2
Other namesMultiple acyl-CoA dehydrogenase deficiency (MADD);[1] Glutaric academia/aceduria type II (GA-II)
Glutaric acid
SpecialtyMedical genetics

Glutaric acidemia type 2 is an

autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy. Incompletely processed proteins and fats can build up, leading to a dangerous chemical imbalance called acidosis. It is a metabolic myopathy, categorized under fatty acid metabolism disorder as that is the bioenergetic system that it affects the most. It also affects choline metabolism.[2]

The phenotypic presentation has 3 forms: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III).[3]

Individuals with glutaric acidemia type 2 frequently experience exercise-induced muscle fatigue, hypotonia, myalgia, and proximal muscle weakness.[4] The symptoms not only overlap with another type of metabolic myopathy, that of mitochondrial myopathy, but MADD also impairs the FAD-dependent respiratory chain in the mitochondria of muscle cells, as well as some muscle biopsies showing COX-negative fibres and deficiency of coenzyme Q10.[5][2]

Genetics

Glutaric acidemia type 2 has an autosomal recessive pattern of inheritance.

Mutations in the

electron transfer flavoprotein, while the ETFDH gene encodes the enzyme electron-transferring-flavoprotein dehydrogenase. When one of these enzymes is defective or missing, the mitochondria cannot function normally, partially broken-down proteins and fats accumulate in the cells and damage them; this damage leads to the signs and symptoms of glutaric acidemia type II.[1]

This condition is inherited in an

carriers of one copy of the defective gene, but do not show signs and symptoms of the disorder themselves.[citation needed
]

Diagnosis

Glutaric acidemia type 2 often appears in infancy as a sudden metabolic crisis, in which acidosis and low blood sugar (

polycystic kidneys). Glutaric acidemia type 2 is a very rare disorder. Its precise incidence is unknown. It has been reported in several different ethnic groups.[citation needed
]

Treatment

It is important for patients with MADD to strictly avoid fasting to prevent

ketone bodies) were helpful in patients with moderately severe disease; further research is needed.[6]

See also

References

  1. ^
    U.S. Department of Health & Human Services
    . Retrieved 20 August 2018.
  2. ^
    PMID 33450351
    .
  3. ^ "#231680 - MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD". www.omim.org. Retrieved 2023-12-06.
  4. ^ "Glutaric acidemia type II". Genetic and Rare Diseases Information Center. Retrieved 23 February 2023.
  5. PMID 27038534
    .
  6. ^
    INSERM and the European Commission
    . Retrieved 30 August 2018.
  7. ^
    Genetic and Rare Diseases Information Center (GARD). National Institutes of Health National Center for Advancing Translational Sciences
    . Retrieved 30 August 2018.
  8. PMID 25289702
    .
  9. S2CID 16829114
    . Retrieved 30 August 2018.
  10. S2CID 25397192
    .

This article incorporates public domain text from The U.S. National Library of Medicine

External links

Retrieved from "https://en.wikipedia.org/w/index.php?title=Glutaric_acidemia_type_2&oldid=1189912329"