GLUTARIC ACIDEMIA – TYPE II

ALTERNATE NAMES

Electron transfer flavoprotein deficiency; EMA; ETFA deficiency; ETFB deficiency; ETFDH deficiency; Ethylmalonic-adipicaciduria; GA II; Glutaric acidemia, type 2; MAD; MADD; Multiple acyl-CoA dehydrogenase deficiency; Multiple FAD dehydrogenase deficiency.

DESCRIPTION

Glutaric Acidemia Type II is an inherited disorder that interferes with the body's ability to break down proteins and fats to produce energy. Incompletely processed proteins and fats can build up in the body and cause the blood and tissues to become too acidic (metabolic acidosis).

This disorder usually appears in infancy or early childhood as a sudden episode called a metabolic crisis, in which acidosis and low blood sugar (hypoglycemia) cause weakness, behavior changes such as poor feeding and decreased activity, and vomiting. These metabolic crises, which can be life-threatening, may be triggered by common childhood illnesses or other stresses.

In the most severe cases of glutaric acidemia type II, affected infants may also be born with physical abnormalities. These may include brain malformations, an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated cardiomyopathy), fluid-filled cysts and other malformations of the kidneys, unusual facial features, and genital abnormalities. Glutaric acidemia type II may also cause a characteristic odor resembling that of sweaty feet.

DIAGNOSTIC

TESTING, PHYSICAL FINDINGS, AND ICD-9-CM CODING

Definitive diagnostic lab testing: Laboratory evidence of elevation of several aminoacides in the urine, a low pH and hypoglycemia. Diagnosis can be confirmed by measurements of enzyme levels and genetic testing for mutations of three genes, ETFA, ETFB, ETFDH, if available in the records.

Physical Findings: The most severely affected child will have some anomalies, including high forehead, low-set ears, rocker bottom feet, genital abnormalities and hepatomegaly.

ICD-9: 277.85 Disorders of fatty acid oxidation

ONSET AND PROGRESSION

The majority of infants affected by this disorder develop symptoms in the first week of life. These may be lethargy, hypotonia, tachypnea and poor feeding. A tell-tale sign may be a “sweaty feet odor”. Most cases quickly progress to metabolic acidosis, respiratory compromise and early death. For some with less severe enzyme deficiencies metabolic decompensation may occur in association with a common childhood illness.

TREATMENT

For the infant whose diagnosis has been made early enough the treatment consists of a diet low in fats and proteins and carnitine replacement.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation: Clinical examination, description of physical findings, genetic testing, blood and urine testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

Meets Listing

110.08 A

110.08 B may occasionally be used for cases that have survived the newborn period but have neurologic impairments.

Medical Equals