GLUTARIC ACIDEMIA – TYPE II
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ALTERNATE NAMES
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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;
Glutaric aciduria
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DESCRIPTION
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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.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Laboratory evidence of elevation of several amino acids 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, and ETFDH, if available, in the
records.
Physical findings: The most severely affected child will have some anomalies, including:
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Genital abnormalities; and
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Enlarged liver (hepatomegaly).
ICD-9: 277.85
ICD-10:
E71.31
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TREATMENT |
For the infant whose diagnosis has been made early enough the treatment consists of
a diet low in fats and proteins and a carnitine replacement.
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PROGRESSION
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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 telltale
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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical examination that describes diagnostic features of the impairment;
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Description of physical findings;
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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110.08 A
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110.08 B may occasionally be used for cases that have survived the newborn period
but have neurologic impairments.
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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