Lactate and pyruvate levels in blood and cerebrospinal fluid in patients with Menkes disease.

Objective: To examine levels of lactate (LA) and pyruvate (PA) in both blood and cerebrospinal fluid (CSF) in patients with Menkes disease (MNK).

Study Design: A nationwide survey involving a retrospective review of medical records or medical record summaries of 42 male patients with MNK born between 1993 and 2008 were performed, and the genetic analysis of their ATP7A gene was reviewed.

Results: In these patients, LA and PA levels and the lactate vs pyruvate ratio (L/P ratio) at diagnosis in both blood and CSF were abnormally high.

Hypothyroidism caused by iodine deficiency and iodine levels in enteral formulas.

Background: A 4-year-old female patient was diagnosed with hypothyroidism caused by iodine deficiency. The patient's iodine levels in serum and urine were significantly low. The iodine concentration in the enteral formula was 1.