Glutaric acidemia II (GAII)

Introduction
Also known as multiple acyl-CoA dehydrogenase deficiency and ETF-DH defects and
are enzymes which transfer electrons from the first step in beta-oxidation to the electron
transport chain These defects are inherited in an autosomal recessive pattern, Major
sequelae high neonatal/infant mortality rate

Clinical Features
Neonatal
Hypoglycemia, acidosis, hypotonia, cardiomyopathy and coma.
Polycystic kidneys and midface hypoplasia may also be present.
Infancy/childhood
Milder variants may resemble MCAD/LCAD deficiency i.e. intolerance to fasting can lead to hypoketotic hypoglycemia
Consequences
Fasting can lead to rapid lethargy, nausea/vomiting, seizures and coma.
Cardiorespiratory arrest and cerebral edema may occur.

Diagnosis
Newborn screen
Tandem mass spectrometry for acylcarnitine profile
Confirmation
Urinary organic acids
Plasma acylcarnitines
Urinary acylglycines
Assays of fatty acid oxidation in skin fibroblast cultures

Treatment
- Frequent feeds (4-6hrly); prevention of fasting, including overnight. Uncooked
  cornstarch, which releases its glucose very slowly through the night, may help. In
  severe cases some restrict fat intake.
- Riboflavin (100mg/day) may be helpful

Situations that risk metabolic decompensation
Fasting

Monitoring
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STAT emergency treatment
IV 10% glucose

Infection/Immunization
Any infection can potentially lead to metabolic decompensation. Therefore its prevention
and/or early intervention is of particular importance. For this and other reasons
immunizations must be kept on track. This includes a yearly vaccine for influenza for
all children with GA type II. There is no contraindication to immunization because of GA
type II, but patients and physicians should be alerted to the need for immediate
evaluation if high fever, lethargy or vomiting occurs in the first 24h. After an immunization
without any other clinical symptoms, administration of acetaminophen or ibuprofen is warranted.

Surgical/surgical procedures
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Growth and development
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Figure