investigation of molybdenum cofactor deficiency due to mocs2 deficiency in a newborn baby
It is a serious recessive inherited neonatal metabolic disease that causes seizures and death or severe brain injury.
Symptoms, signs and brain images similar to hypoxia during childbirth.
In humans, molybdenum cofactor (MOCO)
Four metabolic reactions have been found to be involved: aldehyde dehydrogen enzyme (or oxidase)
, Huang xanthine redox enzyme (or oxidase)
Among them, some components of the synthesis of sulfuric acid root enzymes and molybdenum cofactor are involved in the synthesis of cyclic amine ketone enzyme.
A new born girl developed intractable seizures, horns, exaggerated frightened reflex and vomiting on the second day of her life.
Treatment includes intravenous infusion, glucose supplement, antibiotic therapy, and anti-Twitch medication.
Her condition was aggravated, received palliative treatment, and died 1 week later.
There were no features of deformity, including lentils, but the ultrasound showed a thin callosum body.
Objective: the purpose of this study is to provide the cause, prognosis and genetic counseling.
Methods: urine, blood biochemical analysis, white blood cell DNA Sanger sequencing, analysis of the effect of mutations on protein expression.
Results: low levels of uric acid in blood, S-sulfo-L-
Cysteine and Huang xanthine were elevated in urine.
Compound Z was detected in urine.
Two MOCS2 gene mutations were identified: c.
501 2 delT, destroying the sequence of conserved splice sites, and c. 419C > T (pS140F).
The study of protein expression confirmed p.
S40f replacement is pathogenic.
The parents are proved to be carriers of miscellaneous contracts.
Conclusion: The Mutation analysis confirmed that MOCD in the family could not be treated with cPMP infusion and was able to perform prenatal diagnosis and terminate the subsequent affected pregnancy.