Rare Diseases Symptoms Automatic Extraction

Canavan disease: a novel mutation.

[canavan disease]

Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.432G>A in exon 2, which has not yet been described in Canavan disease.

Diseases presenting "leukodystrophy" symptom

  • achondroplasia
  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • carcinoma of the gallbladder
  • classical phenylketonuria
  • coats disease
  • fabry disease
  • gm1 gangliosidosis
  • krabbe disease
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated