hypotonia-cystinuria syndrome

(redirected from cystinuria with mitochondrial disease)

hypotonia-cystinuria syndrome

A gene-deletion syndrome (OMIM:606407) characterised by generalised hypotonia at birth, nephrolithiasis, growth hormone deficiency, facial dysmorphism and failure to thrive, followed by hyperphagia and rapid weight gain in late childhood.

Genes deleted
SLC3A1, PREPL, PPM1B, C2ORF34, and possibly others.

Molecular pathology
Caused by defects of SLC3A1, which encodes a glycoprotein involved in the transport of cystine and neutral and dibasic amino acids in the renal tubule and intestinal tract.