Last Minute Pädiatrie (German Edition)
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Late-onset forms were rare. Asymptomatic individuals, such as the year-old girl described by Wolf et al. Similar observations have been made by other authors. Of 25 PA patients reported by Lehnert et al.
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Poor intellectual development is still the rule in PA. About three quarters of our study patients were mentally retarded. Median IQ was only 55 and the vast majority of patients required special education. This is in accordance with earlier case series [ 8 , 9 ]. However, our data allow a more positive view when compared to outcome studies of the s [ 2 , 7 ]. Although improved acute and long-term management have increased the survival rates within the last decades, the neurologic outcome of PA patients is still unsatisfactory.
Neuroradiologic findings are rather nonspecific in patients with PA ranging from white matter abnormalities to widening of sulci and fissures, delay in myelination, brain atrophy and basal ganglia changes [ 22 - 24 ]. Impaired physical development is a common problem in patients with PA. Our data are indicative of an early onset and progressive growth retardation in PA patients. Failure to thrive has been postulated to be due to iatrogenic dietary protein restriction, frequent infections and metabolic decompensations [ 21 , 25 ].
To further elucidate the cause of growth retardation, several endocrinologic parameters were determined. Secondary deficiency of IGF-1 can be caused by malnutrition or hypothyroidism [ 26 ]. Severe hypothyroidism was detected in none of our patients. Abnormal puberty which has been reported as a problem before [ 9 ] was also not found apart from one case of hypergonadotropic normogonadism. The most common complications in our patients were hematological abnormalities including anemia, neutropenia, thrombocytopenia or pancytopenia, findings that have been described previously [ 28 , 29 ].
Cardiac complications, especially cardiomyopathy, may contribute significantly to the mortality of PA patients with several fatal cases reported [ 30 ]. More recently, the association between PA and long-QT syndrome has been described [ 31 ]. Jameson and Walter [ 32 ] reported the first case of a child with PA and long-QT syndrome suffering a life-threatening event secondary to long QT syndrome.
Osteoporosis or osteopenia have only been documented in one patient. However, as bone density assessment is usually not done on a regular basis in most patients, osteoporosis might be underdiagnosed. The rather high incidence of impaired hearing ability in our PA population suggests a connection between both disorders. This is in contrast to an earlier assumption by Brosch et al. Pancreatitis seems to be a rare complication [ 35 , 36 ] and was documented in two of our patients only. Optic atrophy, observed in one of the patients studied here, has been reported in four patients with PA [ 37 , 38 ] before.
There is still controversy about the optimum natural protein intake of patients with PA and different therapeutic regimens are used by different metabolic centers. The median natural protein intake in our patients ranged from 0. The high frequency of feeding disorders in this series of patients must be stressed and is in agreement with a report by Touati et al.
About half of all patients received tube-feeding to promote growth and ensure metabolic stability. While the neurologic outcome of PA has been addressed by several case reports and small case series, very little is known about the quality of life of PA patients. In our study, there might be an ascertainment bias because the questionnaire could only be filled in by those patients whose cognitive impairment was only moderate. This may well reflect the significant role of the parents and the family ties that can arise by caring for a child that suffers from a chronic, potentially life-threatening disease.
Notably, evaluation of the questionnaire data suggests, that most patients consider their quality of life high.
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Most patients appeared even to perceive themselves as healthy and felt not affected in their daily life. The results of this self-evaluation resemble very much the data of a healthy control group [ 17 ]. This includes emotional issues and conduct problems.
One half of all patients were considered to have psychological problems or to show at least borderline abnormalities. Chronic diseases may severely affect family life and pose psychosocial stress to parents and siblings. The results of the FaBel-questionnaire revealed higher values for five of the six subscales for PA patients when compared to the healthy controls reported by Ravens-Sieberer [ 19 ].
Those scales include daily and social strains, personal strains and worries about the future, financial burdens and strains on siblings.
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These findings underline that apart from the medical care affected families also need psychological and social support. Therefore, they strongly advocate for the inclusion of psychologists and social workers into the interdisciplinary metabolic team. Our data on a large cohort of PA patients show that the outcome is still poor in most cases especially with regard to the neurocognitive and psychosocial development.
Long-term complications affecting various organ systems are common. Body mass index indices ; CFT: Insulin-like growth factor binding protein 3; IQ: Standard deviation score; SON: However, the sponsor had no influence on the planning and conduction of the study and the interpretation of the results. SCG participated in planning and conduction of the study and in data interpretation. She recruited patients and prepared the draft of the manuscript and the display items together with JOS.
SM and LdS visited all metabolic centers involved in this study, gathered the clinical data by reviewing all available medical records, performed the IQ tests and collected the required laboratory samples. They assembled the data, performed the statistical analyses, prepared one display item, and contributed to the interpretation of the findings. MW organized and performed laboratory investigations and provided logistic support. KW participated in the study design and in the evaluation of endocrinologic data.
TS was in charge of enzymatic diagnostic tests. KOS was the main pediatric endocrinologist of the study. He supervised the endocrinologic evaluation, assessed bone ages and advised on metabolic aspects. JOS conceived and coordinated the project, drafted the manuscript together with SCG and supervised data collection and interpretation. He serves as guarantor for the article.
All authors read and approved the final manuscript. National Center for Biotechnology Information , U. Orphanet J Rare Dis. Published online Jan Received Nov 13; Accepted Jan 7.
This article has been cited by other articles in PMC. Abstract Background Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Conclusion Our data show that the outcome of propionic acidemia is still unfavourable, in spite of improved clinical management. Propionic acidemia, Branched-chain amino acids, Outcome, Quality of life, Clinical course, Physical development, Neurocognitive development, IQ, Long-term complications, Propionyl-coenzyme A carboxylase deficiency.
Background Propionic acidemia PA is a rare autosomal recessively inherited inborn error of propionate metabolism. Patients, materials and methods Patients We investigated 55 living patients with PA from 16 metabolic centers in Germany 12 centers , Austria 3 centers and Switzerland 1 center. Table 1 Sociodemographic data and details of family and perinatal history of 55 study patients. Open in a separate window. Data collection We collected retrospective clinical information by review of medical records. Assessment of neurocognitive outcome and quality of life In patients older than 2.
Results This study provides data on 55 patients with PA. Diagnosis and clinical manifestation Age at diagnosis ranged between 1 day and 8 years of life median 7 days. Physical development Hand and wrist X-rays were available from 28 patients. Psychomotor and cognitive development The majority of patients showed at least a mild impairment of psychomotor and cognitive development.
Table 2 Clinical complications in 51 symptomatic PA patients based on medical records. Long-term therapeutic regimens Diet Retrospectively obtained nutritional data were rather heterogeneous. Feeding difficulties and percutaneous endogastric tube feeding Feeding problems were frequent. Discussion Clinical manifestation As reflected in our study cohort, the clinical heterogeneity of PA is broad, ranging from neonatal onset with severe neurologic symptoms to asymptomatic children.
Neurologic outcome Poor intellectual development is still the rule in PA. Physical development und endocrinologic aspects Impaired physical development is a common problem in patients with PA. Complications The most common complications in our patients were hematological abnormalities including anemia, neutropenia, thrombocytopenia or pancytopenia, findings that have been described previously [ 28 , 29 ]. Therapy There is still controversy about the optimum natural protein intake of patients with PA and different therapeutic regimens are used by different metabolic centers.
Quality of life While the neurologic outcome of PA has been addressed by several case reports and small case series, very little is known about the quality of life of PA patients. Conclusion Our data on a large cohort of PA patients show that the outcome is still poor in most cases especially with regard to the neurocognitive and psychosocial development.
Asymptomatic propionyl-CoA carboxylase deficiency in a year-old girl. Neurologic outcome of propionic acidemia. Adult-onset chorea and dementia with propionic acidemia. Natural history of propionic acidemia. Experience in 30 patients. Methylmalonic and propionic acidaemias: J Inherit Metab Dis. Mutation analysis in 54 propionic acidemia patients.
Radiographic atlas of skeletal development of the hand and wrist. Stanford University Press; Bayley N, Pinneau SR. Tables for predicting adult height from skeletal age: Testmanual mit deutscher Normierung und Validierung; Results of a representative field study. Z Kinder Jugendpsychiatr Psychother.
The testing and validation of the German version of the impact on family scale in families with children with disabilities. Psychother Psychosom Med Psychol. Laboratory Guide to the Methods in Biochemical Genetics. Acylcarnitines, including in vitro loading tests; pp. Clinical outcome and long-term management of 17 patients with propionic acidaemia.
CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. Magnetic resonance spectroscopy MRS in five patients with treated propionic acidemia. J Magn Reson Imaging. Judith Chessells added her strong voice. A much younger me with help from Nasrollah Shahidi had to stand up to these 2 distinguished ladies, both of whom I hold in highest esteem.
It came to a vote and we won but made some changes in Delayed Intensification — limiting the number of anthracycline doses to three and the weeks of dexamethasone to 3. Coming from Wisconsin, the temperature was no challenge. Denman Hammond and I had the last 2 speaking slots.
The night before, Dr. Hammond asked me if I had prepared my remarks. He told me that he would work on his remarks when he got back to his room. He talked and he talked. Riehm stood up and waved his arms. I had the opportunity to address an empty auditorium.