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GTR Home > Tests > Inherited Metabolic Disorders Panel

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from OMIM

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see 214100.

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Cerebellar ataxia
  • Dysarthria
  • Sensorineural hearing impairment
  • Leukodystrophy
  • Hypotonia
  • Nystagmus
  • Unsteady gait
  • Decreased liver function
  • Areflexia
  • Global developmental delay
  • Absent Achilles reflex
  • Hyporeflexia
  • Pes cavus
  • Cerebellar atrophy
  • Limb ataxia
  • Gait ataxia
  • Retinal dystrophy
  • Abnormal cerebral white matter morphology
  • Delayed menarche
  • Impaired vibratory sensation
  • Dysmetric saccades
  • Impaired smooth pursuit
  • Distal sensory impairment
  • Distal amyotrophy
  • Impaired distal vibration sensation
  • Prolonged neonatal jaundice
  • Neonatal hypotonia
  • Motor axonal neuropathy
  • Visual impairment
  • Elevated circulating phytanic acid concentration
  • Intention tremor
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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