Neonatal-onset propionic acidemia: Neurologic and developmental profiles, and implications for management

North, Klaus; Korson, Mark S.; Gopal, Yasodha R.; Rohr, Frances J.; Brazelton, T. Berry; Waisbren, Susan E.; Warman, Matthew L.

doi:10.1016/s0022-3476(95)70208-3

Cited by 58 publications

(49 citation statements)

References 12 publications

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“…From our experience, we expect that well-treated PA patients with adequately low protein intake and a good, stable clinical condition show OLCFA levels below 2.2% [15]. Compared with other patients with early onset PA [7,13], our patients showed reasonable growth and no severe feeding diculties, not even during the the ®rst 2 years of life. As observed by other investigators [6,7], protein tolerance and metabolic stability increased with age (Table 1).…”

Section: Discussionmentioning

confidence: 64%

“…Early diagnosis by selective screening procedures and speci®c therapeutic measures have improved the clinical course and outcome [3,7,8,13,18]. However, no reliable biochemical parameters are yet available for quality control of therapy.…”

Section: Discussionmentioning

confidence: 99%

“…In our patients, the amount of ingested protein was adapted to ensure sucient growth and weight gain [19]. There are dierent recommendations of optimal protein intake in PA [3,4,7,8,9,13,19] but ultimately it still has to be adapted to every patient individually. From our experience, we expect that well-treated PA patients with adequately low protein intake and a good, stable clinical condition show OLCFA levels below 2.2% [15].…”

Section: Discussionmentioning

confidence: 99%

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Odd-numbered long-chain fatty acids in propionic acidaemia

Sperl

Murr

Skladal

et al. 2000

European Journal of Pediatrics

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Our study shows that odd-numbered long-chain fatty acid concentrations are increased in patients with propionic acidaemia and are higher in those with a more severe clinical course. The value of odd-numbered long-chain fatty acids in the assessment of the phenotypic severity and in the management of propionic acidaemia remains to be proven in a prospective long-term study with more patients of differing phenotype.

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Section: Discussionmentioning

confidence: 64%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Odd-numbered long-chain fatty acids in propionic acidaemia

Sperl

Murr

Skladal

et al. 2000

European Journal of Pediatrics

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“…En 80% de los casos la enfermedad se manifiesta en los primeros días de vida pero también ha sido descrita en lactantes, niños mayores y adultos (14). El compromiso cardíaco ha sido descrito en las formas de presentación tardía (15,16).…”

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Acidemia orgánica (propiónica) en un neonato detectada por espectrometría de masas en tándem

et al. 2008

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Institución donde se llevó a cabo el trabajo: Instituto Materno-Infantil, Universidad Nacional de Colombia, Bogotá, D.C., Colombia La acidemia propiónica es un error innato del metabolismo de herencia autosómica recesiva, causada por la deficiencia de la enzima propionil CoA carboxilasa, que cataliza la conversión de propionil CoA a malonil CoA. Es la principal causa de hiperglicinemia cetósica. En el período neonatal se manifiesta comúnmente con vómito, dificultad en la alimentación, hipotonía, letargia, acidosis metabólica, cetosis e hiperamonemia. Se presenta el caso de una recién nacida con cuadro clínico de encefalopatía asociada a hipoglucemia, cetonuria, hiperamonemia, acidosis metabólica con anión gap aumentado, anemia, leucopenia y trombocitopenia en quien se diagnosticó una acidemia orgánica mediante espectrometría de masas en tándem. Existían antecedentes de consanguinidad entre los padres, de un aborto, un mortinato y tres muertes neonatales, sugestivo de enfermedad genética.Palabras clave: recién nacido, encefalopatías, cuerpos cetónicos, hiperamonemia, espectrometría de masas en tándem. Neonatal onset of organic acidemia (propionic) diagnosed by tandem mass spectrometryPropionic acidemia is an autosomal recessive disorder as a result of a deficient activity of propionyl-CoA carboxylase. Propionyl CoA is metabolized by propionyl-CoA carboxylase to methylmalonyl CoA. Propionic acidemia is a major cause of ketotic hyperglycinemia. This disorder is characterized by episodic vomiting, dehydratation, feeding intolerante, lethargy, hypotonia, metabolic acidosis, ketosis and hyperammonemia. The patient presented herein was a full-term female newborn with encephalopathy in the first days of life. She presented hypoglycemia, metabolic acidosis with increased anion gap, ketosis, hyperammonemia, anemia, leukopenia and thrombocytopenia. The brain ultrasonography was normal. The tandem mass expectrometry done by Pediatrix was abnormal, with the acylcarnitine results consistent with an organic acidemia. The parents are consanguineus and have a history of abortus, miscarriage and neonatal death, characteristics suggestive of the presence of genetic defects.

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“…The developmental abnormalities associated with untreated propionic acidemia include: mental retardation, seizures, cerebral atrophy, basal ganglia lesions, and movement disorders such as chorea, dystonia, and hypotonia. [8][9][10] Moreover, other illnesses associated with propionic acidemia include pancreatitis and cardiomyopathy. 5 In addition, children with propionic acidemia are more prone to Candida infections and Klebsiella sepsis.…”

mentioning

confidence: 99%