Glutaric Acidemia Type 1

What this deck covers

Glutaric Acidemia Type 1 in fifteen clinical teaching cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong.

Diagnoses and management options tested

Across the fifteen cases you are asked to choose between options such as: Glutaric Acidemia Type 1, Simple febrile seizure, Bacterial meningitis, Infantile spasms, Sotos syndrome, Canavan disease, Phenylalanine hydroxylase (PAH), Glucose-6-phosphate dehydrogenase (G6PD), Glutaryl-CoA dehydrogenase (GCDH), Branched-chain alpha-keto acid dehydrogenase (BCKAD), 3-Hydroxyglutaric acid, Glutarylcarnitine (C5DC), Karyotype analysis, Urine organic acid analysis, Sweat chloride test, Muscle biopsy, Cerebellar atrophy, Widened Sylvian fissures with frontotemporal hypoplasia, Corpus callosum agenesis, Retinal haemorrhages, Long bone fractures, Scalp haematoma, Subdural haemorrhage, Lysine and tryptophan, Valine and isoleucine, To increase appetite.

Clinical pearls from this deck

• The classic GA-1 crisis is an acute encephalopathic decompensation triggered by a febrile illness in an infant aged 3–36 months. Catabolism releases lysine and tryptophan, glutaric acid and 3-hydroxyglutaric acid flood the striatum, and bilateral striatal injury follows. The tell-tale background finding is macrocephaly.
• GA-1 has a second, quieter face: the insidious phenotype — gradual motor delay with progressive macrocephaly crossing the 97th percentile, and no crisis at all. Roughly a quarter of patients follow this course, and it is easily dismissed as benign familial macrocephaly.

The fifteen worked cases in this deck, with the images and the full explanation of every option, are part of Pediatric Case Review membership. See what is included.

More from this system: all metabolic and genetic decks and question sets · pediatric reference values.