Glutathione-disulfide reductase

Glutaricaciduria I (also known as Glutaric Acidemia Type I) is a rare genetic disorder characterized by the body's inability to fully break down certain amino acids in proteins. This condition is an inborn error of metabolism, specifically affecting the metabolism of the amino acids lysine, hydroxylysine, and tryptophan.

Etiology[edit | edit source]

Glutaricaciduria I is caused by mutations in the GCDH gene, which provides instructions for producing an enzyme called glutaryl-CoA dehydrogenase. This enzyme plays a crucial role in breaking down lysine, hydroxylysine, and tryptophan. Mutations in the GCDH gene reduce or eliminate the activity of this enzyme, preventing these amino acids from being metabolized properly. As a result, harmful amounts of glutaric acid and related compounds build up in the body, causing damage to the brain and other organs.

Symptoms[edit | edit source]

The symptoms of Glutaricaciduria I can vary widely among affected individuals. They typically appear in infancy or early childhood and can include developmental delay, muscle weakness, and movement problems. Some individuals may also have an unusually large head size (macrocephaly) and other physical abnormalities.

Diagnosis and Treatment[edit | edit source]

Diagnosis of Glutaricaciduria I typically involves genetic testing to identify mutations in the GCDH gene. Treatment is primarily focused on managing symptoms and preventing complications. This may involve dietary restrictions to limit intake of the affected amino acids, medications to help remove excess glutaric acid from the body, and physical therapy to help manage movement problems.

Prognosis[edit | edit source]

The prognosis for individuals with Glutaricaciduria I can vary widely, depending on the severity of symptoms and the effectiveness of treatment. With early diagnosis and appropriate management, many individuals with this condition can lead relatively normal lives.

NIH genetic and rare disease info[edit source]

NIH info on Glutathione-disulfide reductase

Glutathione-disulfide reductase is a rare disease.

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v t e Genetic disorders
General Concepts	Genetics Mutation Chromosome Genetic variation Heritability
Types and Disorders	Autosomal dominant Huntington's disease Marfan syndrome Autosomal recessive Cystic fibrosis Sickle cell disease X-linked dominant Rett syndrome X-linked recessive Hemophilia Color blindness Mitochondrial Leber's hereditary optic neuropathy
Diagnosis and Treatment	Genetic testing Gene therapy Personalized medicine Prenatal diagnosis
Related Topics	Evolutionary biology Medical genetics Pharmacogenomics Population genetics
This genetic disorder related article is a stub.

v t e Metabolic pathology‏‎
Disorders of carbohydrate metabolism	Diabetes mellitus Lactose intolerance Fructose malabsorption Galactosemia Glycogen storage disease
Disorders of amino acid metabolism	Phenylketonuria Maple syrup urine disease Alkaptonuria Homocystinuria Urea cycle disorder
Disorders of lipid metabolism	Hyperlipidemia Lipoprotein lipase deficiency Familial hypercholesterolemia Gaucher's disease Niemann-Pick disease
Disorders of purine and pyrimidine metabolism	Gout Lesch-Nyhan syndrome Adenosine deaminase deficiency Xanthinuria
Disorders of mineral metabolism	Hemochromatosis Wilson's disease Hypocalcemia Hypercalcemia Magnesium deficiency
Disorders of porphyrin metabolism	Porphyria Acute intermittent porphyria Porphyria cutanea tarda Erythropoietic protoporphyria
Other metabolic disorders	Mitochondrial disease Lysosomal storage disorder Peroxisomal disorder Mucopolysaccharidoses Cystinosis
This metabolic pathology-related article is a stub.

v t e Rare and genetic diseases
Rare diseases - Glutathione-disulfide reductase
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Also see	Comprehensive list of genetic and rare diseases
Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine