Menkes disease and response to copper histidine: An Indian case series.

ABSTRACT:

Background

Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers. However, on rare occasions, females may manifest with classical clinical phenotype due to skewed X-chromosome inactivation, X-autosome translocation, and XO genotype. Here, we describe a small series of probands with MD and their response to copper histidine therapy. This series also includes a female with X-13 translocation manifesting neurological symptoms.

Methods

The clinical profile, laboratory and radiological data, and follow-up of four children with MD were

SUBMITTER: Yoganathan S 

PROVIDER: S-EPMC5341272 | biostudies-literature | 2017 Jan-Mar

REPOSITORIES: biostudies-literature