Neurodevelopmental Disorders Symptoms

Which of the following best describes dystonia?

Significant motor disabilities resulting in inability to walk
Intermittent muscle contractions causing abnormal movements (correct)
Abnormal brain dysfunction leading to cognitive impairment
Slow, twisting, armless muscle movements

What is choreoathetosis characterized by?

Abnormal body movements that are slow and twisting (correct)
Persistent muscle contractions causing repetitive movements
Inability to sit straight or perform basic motor tasks
Abnormal brain dysfunction leading to muscle spasms

What can be inferred from the age at diagnosis in the Cypriot patients with Glutaric aciduria Type I?

Late diagnosis may result in better prognosis for the patients
Age at diagnosis has no impact on the clinical course of the disease
Early diagnosis may help in better management of the condition (correct)
The age at diagnosis is not relevant to Glutaric aciduria Type I

What did the diagnosis of Glutaric aciduria type I in the Cypriot patients rely on?

Genetic testing for glutaryl-CoA dehydrogenase gene mutations (C) Signup and view all the answers

What is the ethnic origin of Patient 4 with Glutaric aciduria type 1?

Greek Cypriot (A) Signup and view all the answers

What can be stated about Patient 5 with Glutaric aciduria type 1?

Patient 5 has a Greek Cypriot and Ukrainian ethnic origin (A) Signup and view all the answers

What is the treatment for Glutaric Aciduria Type I?

Low lysine, tryptophan diet (D) Signup and view all the answers

Which compound is essential for the metabolism of fatty acids in Glutaric Aciduria Type I?

Glutarylcarnitine (B) Signup and view all the answers

What is the role of Carnitine in Glutaric Aciduria Type I therapy?

Excretion of glutarylcarnitine (D) Signup and view all the answers

Which of the following is NOT a typical symptom associated with Glutaric Aciduria Type I?

Hyperglycemia (B) Signup and view all the answers

What is the genotype data of patient 5 with Glutaric Aciduria Type I?

c.803G>T (p.Gly268Val)/ c.1204C>T (p.Arg402Trp) (D) Signup and view all the answers

What is the clinical course classification for severe Glutaric Aciduria Type I?

Severe (B) Signup and view all the answers

Which mutation is found in the GCDH gene novel mutations?

GAG GGT (A) Signup and view all the answers

What treatment is used to reduce the rate of formation of glutaric acid in Glutaric Aciduria Type I?

$ ext{L-carnitine}$ supplementation (B) Signup and view all the answers

'Undetectable' enzyme activity in skin fibroblasts indicates what in Glutaric Aciduria Type I?

$2%$ of normal mean value (B) Signup and view all the answers

What is the principle of separation in Gas Chromatography-Mass Spectrometry (GC-MS)?

Compounds with low boiling points eluting from the column (C) Signup and view all the answers

In Glutaric Aciduria Type I, what was the enzymatic activity measured in the Chorionic Villus Sampling (CVS) sample?

Glytaryl-CoA dehydrogenase activity (B) Signup and view all the answers

What was the clinical examination finding related to the patient with Glutaric Aciduria Type I?

Hypotonia (C) Signup and view all the answers

What was the genetic mutation identified in the patient with Glutaric Aciduria Type I?

c.192G>A (p.Glu64Asp) (A) Signup and view all the answers

What type of acid was found to be elevated in the urine organic acid analysis of the Glutaric Aciduria Type I patient?

Glutaric acid (A) Signup and view all the answers

What is the enzyme responsible for breaking down Glutaryl-CoA in the body?

Glutaryl-CoA dehydrogenase (B) Signup and view all the answers

What type of mental retardation was observed in the unaffected child born to the couple?

Mild mental retardation (C) Signup and view all the answers