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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Glutaric acidemia type II


Other Names for this Disease
  • EMA
  • Ethylmalonic-adipicaciduria
  • GA 2
  • Glutaric acidemia 2
  • Glutaric acidemia type 2
More Names
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Your Question

Can this condition cause jaw bone malformations?

Our Answer

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Can glutaric acidemia type II cause jaw bone malformations?

In severe cases that appear in the neonatal period, affected individuals may be born with various physical abnormalities. Although a range of specific facial characteristics have been reported, we are unaware of reports in the medical literature that specifically link glutaric acidemia type II with jaw bone malformations.

Birth defects of the face or head are called craniofacial abnormalities. Those that have been reported in individuals with the neonatal form and congenital abnormalities include abnormally large head size (macrocephaly); large anterior fontanel ("soft spot" on the top of the newborn's head); high forehead; flat nasal bridge; low-set and/or malformed ears; and a long and narrow head (dolichocephaly).[1][2]
Last updated: 8/20/2013

What are the signs and symptoms of glutaric acidemia type II?

Signs and symptoms of glutaric acidemia type II (GA2) can vary widely depending on the age of onset and severity of the condition in each affected individual. In most cases, the condition appears in infancy or early childhood as a sudden episode called a metabolic crisis which causes weakness; behavior changes such as poor feeding and decreased activity; and vomiting. These crises can be life-threatening and may be triggered by common childhood illnesses or other stresses on the body.

The most severe cases may appear in the neonatal period (within the first 4 weeks of life) and may also be characterized by the presence of physical abnormalities at birth. These abnormalities 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. Some affected individuals have a characteristic odor resembling sweaty feet.

Other cases are less severe and may appear later in childhood, in adolescence, or in adulthood. In the most mild cases, muscle weakness may be the first sign of the disorder.[3]
Last updated: 8/16/2013

References