Our daughter after a lifetime of health issues was diagnosed with a mitochondrial depletion syndrome
at age 16.
A decision was made to perform both maxillary and mandibular gingivectomy, although the procedure was postponed because the patient's general condition had deteriorated as the boy had signs of neurological impairment and malnutrition associated with intestinal protein depletion syndrome
, and a presumed angiomatosis.
Quantitative evaluation of the mitochondrial DNA depletion syndrome
The Huyton infant has mitochondrial depletion syndrome
and a mutation in one of her genes, called HPV17, meaning cells in her body do not function properly.
RRM2B mtDNA depletion syndrome presenting as pyruvate dehydrogenase deficiency.
The mtDNA depletion syndromes (MDDSs) are a clinically heterogeneous group of autosomal recessive disorders caused by molecular defects in the nuclear genes involved in mtDNA biosynthesis and the maintenance of the deoxynucleotide pools.
mtDNA depletion syndrome
(MDS) is a quantitative disorder characterized by a variable tissue-specific reduction in mtDNA copy number.
In addition, we found increased concentrations of free carnitine in 27 samples from children with known carnitine supplementation, in 1 postoperative sample, in 1 sample from a child with kidney agenesis, in 1 sample from a child with mitochondrial DNA depletion syndrome
, in 2 samples from the newborn period of the first CPT-I patient to be detected prospectively by ESI-MS/MS newborn-screening, and in 4 samples of two cases of prediagnosed CPT-I deficiency.
We evaluated coenzyme Q10 (CoQ) levels in patients studied under suspicion of mitochondrial DNA depletion syndromes