22 Questions
Which of the following best describes dystonia?
Intermittent muscle contractions causing abnormal movements
What is choreoathetosis characterized by?
Abnormal body movements that are slow and twisting
What can be inferred from the age at diagnosis in the Cypriot patients with Glutaric aciduria Type I?
Early diagnosis may help in better management of the condition
What did the diagnosis of Glutaric aciduria type I in the Cypriot patients rely on?
Genetic testing for glutaryl-CoA dehydrogenase gene mutations
What is the ethnic origin of Patient 4 with Glutaric aciduria type 1?
Greek Cypriot
What can be stated about Patient 5 with Glutaric aciduria type 1?
Patient 5 has a Greek Cypriot and Ukrainian ethnic origin
What is the treatment for Glutaric Aciduria Type I?
Low lysine, tryptophan diet
Which compound is essential for the metabolism of fatty acids in Glutaric Aciduria Type I?
Glutarylcarnitine
What is the role of Carnitine in Glutaric Aciduria Type I therapy?
Excretion of glutarylcarnitine
Which of the following is NOT a typical symptom associated with Glutaric Aciduria Type I?
Hyperglycemia
What is the genotype data of patient 5 with Glutaric Aciduria Type I?
c.803G>T (p.Gly268Val)/ c.1204C>T (p.Arg402Trp)
What is the clinical course classification for severe Glutaric Aciduria Type I?
Severe
Which mutation is found in the GCDH gene novel mutations?
GAG GGT
What treatment is used to reduce the rate of formation of glutaric acid in Glutaric Aciduria Type I?
$ ext{L-carnitine}$ supplementation
'Undetectable' enzyme activity in skin fibroblasts indicates what in Glutaric Aciduria Type I?
$2%$ of normal mean value
What is the principle of separation in Gas Chromatography-Mass Spectrometry (GC-MS)?
Compounds with low boiling points eluting from the column
In Glutaric Aciduria Type I, what was the enzymatic activity measured in the Chorionic Villus Sampling (CVS) sample?
Glytaryl-CoA dehydrogenase activity
What was the clinical examination finding related to the patient with Glutaric Aciduria Type I?
Hypotonia
What was the genetic mutation identified in the patient with Glutaric Aciduria Type I?
c.192G>A (p.Glu64Asp)
What type of acid was found to be elevated in the urine organic acid analysis of the Glutaric Aciduria Type I patient?
Glutaric acid
What is the enzyme responsible for breaking down Glutaryl-CoA in the body?
Glutaryl-CoA dehydrogenase
What type of mental retardation was observed in the unaffected child born to the couple?
Mild mental retardation
Test your knowledge on identifying symptoms of neurodevelopmental disorders such as developmental delay, seizures, learning difficulties, and speech delay. See if you can recognize patterns in symptoms associated with specific disorders.
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