Unusual presentations of propionic acidemia

Özand, Pinar; Rashed, Mohamed S.; Gascon, Generoso G.; Youssef, N.G.; Harfi, Harb A.; Rahbeeni, Zuhair; Garawi, S. Al; Aqeel, A. Al

doi:10.1016/0387-7604(94)90096-5

Cited by 55 publications

(30 citation statements)

References 29 publications

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“…The residual PCC activities were higher than those of severe phenotype patients. They were comparable, however, to those of patients with unusual phenotypes (Sethi et al 1989;Pérez-Cerdá et al 1998;Nyhan et al 1999;Ozand et al 1994).…”

Section: Population Studymentioning

confidence: 80%

“…Similarly, Nyhan et al (1999) published their findings on two patients (20 and 8 years old) who presented with Lesch-Nyhan syndrome-like neurological symptoms without evidence of metabolic acidosis. In addition, in their survey of 25 patients with propionic acidemia, Ozand et al (1994) found that only 14 patients had classical acidemic attacks in the neonatal period, while another 11 patients presented initially with unusual symptoms, which included primary hyperammonemia, severe vomiting mimicking intestinal obstruction, acute or chronic encephalopathy, or immunodeficiency-like episodes. Notably, most of these patients with unusual symptoms were found to have a higher residual activity of PCC (mostly 7-15% of normal controls) as compared with patients with classical presentation (usually 1-5% of normal controls, Fenton et al 2001).…”

Section: Introductionmentioning

confidence: 96%

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Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

et al. 2002

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Propionic acidemia [MIM 606054] is a form of organic acidemia caused by genetic deficiency of propionyl-CoA carboxylase (PCC) and characterized by attacks of severe metabolic acidemia and hyperammonemia beginning in the neonatal period or in early infancy. There are, however, patients who have higher PCC activities and present later with unusual symptoms, such as mild mental retardation or extrapyramidal symptoms, sometimes even without metabolic acidosis. Through the neonatal screening of more than 130,000 Japanese newborns we detected a frequency of patients with propionic acidemia more than ten times higher than previously reported, most of them with milder phenotypes. The mutational spectrum was quite different from that of patients with the severe form and there was a common mutation (Y435C) in the beta subunit of the PCC gene (PCCB). Since patients with the mild form could present with unusual symptoms and therefore could easily remain unrecognized, it is important to identify those patients and clarify their natural history. Molecularly, one of the mutations (A1288C) caused an unusual pattern of multiple exon skipping and another unidentified mutation lead to the absence of mRNA. Taking into consideration previous findings regarding PCCB mutations, it appears that this gene is particularly prone to posttranscriptional modifications such as missense mediated exon skipping, mRNA decay, or rapid product degradation.

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Section: Population Studymentioning

confidence: 80%

Section: Introductionmentioning

confidence: 96%

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

et al. 2002

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“…According to multiple reports of infections caused by different pathogens in patients with organic acidemia, there is a possibility of accompanying immunodeficiency; therefore, exploring the components of the immune system seems valuable (6)(7)(8)(9)(10). According to a guideline presented in 2014, evaluation of serum C-reactive protein and blood culture is essential in the acute phase of these diseases, as the patients are often immunocompromised (11).…”

Section: Introductionmentioning

confidence: 99%

Evaluation of Phagocytic Component of the Immune System in Patients with Organic Acidemia

Alaei¹,

Najjarbashi²,

Shakiba³

et al. 2017

Arch Pediatr Infect Dis

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Background: There are several reports of recurrent infections in patients with organic acidemia. Almost all studies on the immune system of these patients have investigated the immune system in the acidotic phase of the disease. In the present study, the phagocytic component of the immune system was evaluated in patients with organic acidemia. Methods: After exclusion of patients in the acidotic phase of the disease, 31 patients with organic acidemia were included in the study. All patients completed the written informed consents, and the study was approved by the ethics committee of Mofid Children's hospital. Information including age, sex, type of organic acidemia, and history of hospitalization due to infection was recorded. Screening tests of phagocytic component of the immune system, including total and differential white blood cell (WBC) count and nitroblue tetrazolium (NBT) test, were performed for all the patients. Results: The prevalence of neutropenia was high among patients (22.6%); it was even more frequent in patients younger than 3 years (42.6%). On the other hand, in most patients (93.5%), neutrophils showed normal function on the NBT test. Conclusions: Neutropenia in the nonacidotic phase of organic acidemia can be the cause of recurrent infections in these patients. It can be independent of bone marrow suppression, caused by reduced production of these cells as a result of reduced pH in the acidotic phase of the disease.

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“…La atrofia del nervio óptico ha sido descrita en hombres con acidemia propiónica, independiente del control metabólico de la enfermedad (17 (20).…”

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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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Unusual presentations of propionic acidemia

Cited by 55 publications

References 29 publications

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

Evaluation of Phagocytic Component of the Immune System in Patients with Organic Acidemia

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

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