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Hyperammonemia crisis following parturition in a female patient with ornithine
transcarbamylase deficiency
#MMPMID28293384
Kido J
; Kawasaki T
; Mitsubuchi H
; Kamohara H
; Ohba T
; Matsumoto S
; Endo F
; Nakamura K
World J Hepatol
2017[Feb]; 9
(6
): 343-348
PMID28293384
show ga
Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder, with an
estimated prevalence of 1 per 80000 live births. Female patients with OTCD
develop metabolic crises that are easily provoked by non-predictable common
disorders, such as genetic (private mutations and lyonization) and external
factors; however, the outcomes of these conditions may differ. We resuscitated a
female patient with OTCD from hyperammonemic crisis after she gave birth.
Hyperammonemia after parturition in a female patient with OTCD can be fatal, and
this type of hyperammonemia persists for an extended period of time. Here, we
describe the cause and treatment of hyperammonemia in a female patient with OTCD
after parturition. Once hyperammonemia crisis occurs after giving birth, it is
difficult to improve the metabolic state. Therefore, it is important to perform
an early intervention before hyperammonemia occurs in patients with OTCD or in
carriers after parturition.