Paula and Bobby
Parents of Lillie
Alpha-Ketoglutarate Dehydrogenase Deficiency
What is Alpha-Ketoglutarate Dehydrogenase Deficiency?
Alpha-Ketoglutarate Dehydrogenase Deficiency is a rare disease. It is also known as 2-ketoglutarate Dehydrogenase Deficiency Alpha-ketoglutarate dehydrogenase deficiency Alpha-kgd Deficiency Oxoglutaric Aciduria.
2-oxoglutaric acid is the most prominent oxoacid in normal children and a transient increase is probably of little significance. However 2 sibs are described by Kohlschutter et al., (1982) with mental retardation and, over and above that, a progressive extrapyramidal syndrome. Later in the course of the condition pyramidal signs developed. Amino acid levels were normal but organic acid analysis showed a consistently elevated 2-oxoglutaric acid. Analysis of 2-oxoglutarate dehydrogenase in fibroblasts revealed an activity which was 25% of normal.
Another sibship has been reported by Bonnefont et al., (1992). The infants were floppy from birth but became spastic and developed extrapyramidal movements. Plasma glutamate and glutamine were raised and the sibs had a lactic acidosis. Alphaglutarate dehydrogenase deficiency might be found in PDH deficiency, the branch-chain ketoacidemias, multiple carboxylase deficiency and a variant form of maple syrup urine disease, but these were excluded.
* This information is courtesy of the L M D.
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What gene changes cause Alpha-Ketoglutarate Dehydrogenase Deficiency?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 203740 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
OGDH - 7p13
What are the main symptoms of Alpha-Ketoglutarate Dehydrogenase Deficiency?
The typical symptoms of the syndrome are:
Abnormality of movement, Abnormal salivary gland morphology, Skeletal muscle atrophy, Autosomal recessive inheritance, Congenital lactic acidosis, Incoordination, Hypertonia, Cognitive impairment, Hydrocephalus, Short stature, Death in childhood, Metabolic acidosis, Increased serum lactate, Muscular hypotonia
How does someone get tested for Alpha-Ketoglutarate Dehydrogenase Deficiency?
The initial testing for Alpha-Ketoglutarate Dehydrogenase Deficiency can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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