Severe cutaneous manifestations in a child with refractory Kawasaki disease.
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Glucocorticoids↗
Biomedical subjects
G M Poggi
Publications and source records attributed to G M Poggi.
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.
Genetic and biochemical prenatal diagnosis was performed at 11 weeks of gestation in a family with a proband affected by mut methylmalonic aciduria (MMA) and homozygotes for the MUT gene c.643G>A (p.Gly215Ser) mutation. Both chorionic villus and amniotic fluid samples were used. The presence of high levels of methylmalonic acid and propionylcarnitine determined by gas chromatography/mass spectrometry and LC/MS/MS analysis, respectively, and the identification of the p.Gly215Ser at a homozygous level in foetal DNA allowed a certain, rapid and early diagnosis. To our knowledge, this is the first mut MMA prenatal diagnosis carried out by genetic and biochemical approach.
Amino Acid Metabolism, Inborn Errors↗
Hyperammonaemia in a child with distal renal tubular acidosis.
A 5-month-old girl with distal renal tubular acidosis (RTA) and hyperammonaemia that had lasted for 12 days, despite metabolic acidosis correction, is presented in this report. The patient showed failure to thrive, poor feeding, hypotonia and vomiting crisis in absence of inborn errors of metabolism. Probably, hyperammonaemia was the result of an imbalance between the increased ammonia synthesis, in response to metabolic acidosis, and the impaired ammonia excretion, typical of distal RTA. Our case confirms that hyperammonaemia may be observed in distal RTA, mimicking an inborn error of metabolism, and it underlines that hyperammonaemia may persist several days after metabolic acidosis correction.
Acidosis, Renal Tubular↗
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency.
We report seven novel mutations, including three amino acids substitutions (p.Glu286Lys, p.Cys560Tyr, p.Pro615Leu), two nonsense mutations (p.Arg31X, p.Glu 451X), one splicing defect (c.2125-1G >A), one small deletion (c.1758-1759delA) and nine previously described mutations identified in 10 unrelated Italian patients affected by mut MMA.
Adult↗
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion.
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Abnormalities, Multiple↗
Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency.
We describe a case of methylmalonic aciduria (MMA) occurred in a 22-month-old boy whose diet was exclusively based upon breast-feeding from a mother following a long-lasting strict vegetarian diet. Clinical picture showed a dramatic onset, with a profound drowsiness associated with a severe metabolic acidosis, hyperammonemia, macrocytic anemia, ketonuria, and massive methylmalonic aciduria without homocystinuria. Both symptoms and biochemical findings quickly improved thanks to prompt vitamin B(12)parenteral therapy. Biochemical and enzymatic findings allowed a diagnosis of mild mutase deficiency, which only and inadequate dietary B(12)contribution might have revealed. Our case highlights the risk of a prolonged strictly vegetarian diet of lactating mother for providing inadequate amounts of some nutrients to the breast-fed baby. Moreover, such a dietary behaviour could dramatically unmask otherwise clinically unapparent metabolic defects in the baby.
Adult↗
Lethal late onset cblB methylmalonic aciduria.
OBJECTIVE: To alert the physicians to the possibility of a late-onset inborn error of metabolism in an apparently previously healthy patient with acute clinical presentation. DESIGN: Case report. SETTING: Pediatric unit and general intensive care unit. PATIENT: An apparently previously healthy 12-yr-old female presented acutely with vomiting, fever, bronchopneumonia, and progressive loss of consciousness associated with ketoacidosis, hyperglycemia, and hyperammonemia. She died 3 days later with a diagnosis of insulin-dependent diabetes mellitus. INTERVENTIONS: Intravenous hydration, glucose and insulin, mechanical ventilation. MEASUREMENTS AND MAIN RESULTS: Organic acid analysis on a postmortem sample of aqueous humor revealed high levels of methylmalonic acid. Enzymatic studies on cultured fibroblasts were consistent with the diagnosis of cblB methylmalonic aciduria. CONCLUSIONS: The diagnosis of cblB methylmalonic aciduria was made in a postmortem patient who died with a misdiagnosis of insulin-dependent diabetes mellitus. Unclear biochemical findings and positive family history should strongly lead to suspicion of an inborn error of metabolism in an apparently previously healthy critically ill patient.
Adaptor Proteins, Signal Transducing↗