BIOCHEMICAL DEFECT

DIAGNOSIS

Gene
ETFA, ETFB, ETFDH (AR)

Diagnostic Test
Urine Organic Acids

SIGNS & SYMPTOMS

Neurological
Encephalopathic crisis, stroke, basal ganglia lesions (MRIscan)

Non-Neurological
Dysmorphisms, macrocephaly, urine sweaty feet odor

THERAPY

Treatment
Carnitine, Riboflavin, β-hydroxybutyrate Supplements; Sick Day Management

Level of Evidence
5

Clinical Practice
Standard of Care

Treatment Effect
Prevents metabolic decompensation; improves systemic manifestations

General Resources

Literature Resources

Patient Resources

OMIM

Guidelines

Cohort Study

Patient Organisations (Gene Test)

Gene Reviews

Reviews

Outcome Study

Patient Organisations (Orphanet)

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Glutaric Acidemia II

Multiple FAD dehydrogenase deficiency, also known as glutaric aciduria type II, impairs fatty acid oxidation, and also stops the oxidation of branched amino acids, lysine and glutaric acid. Complete deficiency causes severe disorders in neonates, including acidotic coma without ketosis, hypoglycemia, hyperammonemia, hypotonia, myocardiopathy, and sometimes congenital malformations (polycystic kidneys, dysmorphic facies). Juvenile, adolescent or even adult forms have been reported but are less severe, with muscular hypotonia, progressive myocardiopathy or proximal myopathy. (Source: Orphanet)

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