A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

[canavan disease]

Canavan disease (CD ) is an autosomal recessive inherited disorder characterized by spongy degeneration of the brain . The deficiency of aspartoacylase (ASPA ), resulting in the accumulation of N-acetyl aspartic acid (NAA ) in the brain , plays an important role in the pathogenesis of the disease . The cardinal features of this neurodegenerative disease are macrocephaly , mental retardation , and hypotonia . Magnetic resonance imaging (MRI ) of the brain generally shows diffuse white matter degeneration and also elevated excretion of urinary NAA is usually seen . A large number of mutations were identified to date . We report here a 9 months old girl with Canavan Disease and a homozygous c .79 G >A mutation in the ASPA gene , detected for the first time in Turkish population .

Diseases
Validation

Diseases presenting "large number" symptom

acute rheumatic fever

adrenal incidentaloma

allergic bronchopulmonary aspergillosis

canavan disease

coats disease

cowden syndrome

dedifferentiated liposarcoma

dracunculiasis

epidermolysis bullosa simplex

fabry disease

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

kindler syndrome

legionellosis

malignant atrophic papulosis

neuralgic amyotrophy

phenylketonuria

pleomorphic liposarcoma

primary effusion lymphoma

scrub typhus

severe combined immunodeficiency

triple a syndrome

waldenström macroglobulinemia

well-differentiated liposarcoma

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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