What else is it called?
- D-glyceric acidemia
- Glycerate kinase deficiency
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What causes it?
D-Glyceric Aciduria is a rare autosomal recessive condition characterised by high levels of D-glyceric acid excretion. D-glyceric acid is involved in the catabolic [breakdown] pathway of the amino acid serine and to a lesser extent, fructose metabolism. D-glyceric aciduria is caused by D-glycerate kinase deficiency which normally breaks down D- glycerate and therefore this deficiency leads to a build-up of the potentially harmful metabolite D- glycerate. It is believed that this condition is due to a mutation in the gene GLYCTK which provides the instructions for your body to produce the enzyme Glycerate kinase which can break down D glycerate to 2-phosphoglycerate.
How common is it?
Due to the rarity of this metabolic condition there is very limited information on how common this condition is or whether it is more common amongst males or females or specific ethnicities.
What are the signs and symptoms?
This disorder usually starts after birth but may appear at any age. The signs and symptoms of this disorder may include:
- Neurological impairment
- Failure to thrive
- Mild speech delay
- Intellectual disability
- Developmental delay
- Progressive encephalopathy
- Abnormal increase in muscle tone or stiffness of muscle (spasticity)
- Psychomotor retardation
- Failure to thrive
- Abnormally small head (microcephaly)
- Behavioural abnormalities
- Sensorineural hearing impairment
- Chronic metabolic acidosis
- Neonatal hypotonia
Symptoms for this condition are individual to each person diagnosed, whilst some patients may have the severe signs and symptoms listed, some may have only mild speech delay or even normal development as previous research suggests.
How is it diagnosed?
Analyte testing via urinalysis or by blood testing for organic acids linked with this disorder in blood and in urine are commonly used for diagnosis this type of metabolic condition. A urine collection may be required over a 24-hour period or from a one-off sample produced by yourself.
A blood sample is a relatively painless procedure which involves a fine needle entering your vein to draw out a sample of blood to test for metabolite concentrations. The diagnosis of D-glyceric aciduria may be indicated by the identification of increased urinary concentrations of glyceric acid by gas chromatography (GC) or preferably by GC coupled to mass spectrometry (GC/MS) to check for high levels of this metabolite in patient samples. Further testing is required in order to determine the optical configuration of the glyceric acid, in order to differentiate D-glyceric aciduria from other metabolic conditions such as primary hyperoxaluria type II.
Can it be treated?
Previous research suggested that a fructose free diet has proved beneficial in some of the symptoms experienced due to the enzyme’s involvement in fructose metabolism, although this has been stated as subjective to one case and may not be beneficial to a whole population who are diagnosed with this condition. Administration of bicarbonate may be also considered. Although there is no current treatment for this condition and the treatment available is aimed at managing the symptoms experienced, the number of new diagnosis may help to identify new therapeutic measures of treatment.
Do my family need to be tested?
D-Glyceric Aciduria can only be passed on to a child if both parents have a copy of the faulty gene. This is called autosomal recessive inheritance. A person who has a copy of the faulty gene is known as a carrier.
If both parents are carriers, their child has a one in four (25%) chance of inheriting the disorder, and a one in two chance (50%) of being a carrier. This is the same for each child the parents have.
If the child only inherits one copy of the faulty gene, they will be a carrier but will not have the disorder. In some rare cases, carriers have had mild symptoms of the disorder for which they carry the faulty gene.
Once you are diagnosed, you can speak to a genetic counsellor. They can explain how you may have inherited D-Glyceric Aciduria. They can also tell you about genetic testing for the rest of your family. They can provide advice and support if you go on to have children of your own.
References are available on request. Please contact Helen Morris by phoning 0845 241 2173 or emailing email@example.com [Resource Library No: AAP002].