Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.

ABSTRACT:

Background

MEGDEL (3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome) syndrome is a mitochondrial disorder associated with recessive mutations in SERAC1.

Objectives

To report transient neonatal renal findings in MEGDEL syndrome.

Results

This 7 year-old girl was the first child of consanguineous Turkish parents. She exhibited an acute neonatal deterioration with severe lactic acidosis and liver failure. Initial evaluation revealed massive polyuria and renal failure with 3-methylglutaconic aciduria. Symptoms and biological findings progressively improved with symptomatic treatment but lactic acidosis and high lactate to pyruvate ratio along with 3-methylglutaconic aciduria persisted. At 8 months of age, a subacute neurological degradatio

SUBMITTER: Harbulot C 

PROVIDER: S-EPMC4908062 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature