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ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Disease definition

A rare, genetic, neurometabolic disease characterized by early onset encephalopathy with progressive microcephaly, severe global development delay, seizures, hypotonia, feeding difficulties, variable cardiac abnormalities, and cataracts. Brain MRI shows distinct pattern with high T2 signal and restricted diffusion in the posterior limb of the internal capsule in combination with delayed myelination and progressive cerebral atrophy. The disease is typically fatal.


Classification level: Disorder
  • Synonym(s):
    • Martsolf-like syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: G40.4
  • OMIM: 616647
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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