2015
DOI: 10.1007/s10545-015-9840-x
|View full text |Cite|
|
Sign up to set email alerts
|

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Abstract: Neurologic impairment is common in OAD and UCD, whereas the involvement of other organs (heart, liver, kidneys, eyes) follows a disease-specific pattern. The identification of unexpected chronic renal failure in GA1 and ASL deficiency emphasizes the importance of a systematic follow-up in patients with rare diseases.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

10
205
1
6

Year Published

2017
2017
2022
2022

Publication Types

Select...
7
1

Relationship

6
2

Authors

Journals

citations
Cited by 192 publications
(228 citation statements)
references
References 80 publications
10
205
1
6
Order By: Relevance
“…Similar to findings in other organic acidurias [73], there have been single reports of patients with pancreatitis [39,[74][75][76]. Liver fibrosis [28] and, most recently, optic nerve atrophy [71] have also been associated with IVA. Pregnancies of affected women have been reported as uneventful [77][78][79].…”
Section: Clinical Presentationsupporting
confidence: 59%
See 2 more Smart Citations
“…Similar to findings in other organic acidurias [73], there have been single reports of patients with pancreatitis [39,[74][75][76]. Liver fibrosis [28] and, most recently, optic nerve atrophy [71] have also been associated with IVA. Pregnancies of affected women have been reported as uneventful [77][78][79].…”
Section: Clinical Presentationsupporting
confidence: 59%
“…Symptoms are often nonspecific and include feeding difficulties, vomiting, and failure to thrive and/or developmental delay and cognitive impairment. Neurological manifestations of IVA relate to EEG abnormalities or seizures and motor dysfunction [71,72]. Similar to findings in other organic acidurias [73], there have been single reports of patients with pancreatitis [39,[74][75][76].…”
Section: Clinical Presentationmentioning
confidence: 53%
See 1 more Smart Citation
“…Estimated incidences are 1:35,000 for UCD (Summar et al 2014) and 1:21,000 for OA (Dionisi-Vici et al 2002). Recently, the natural course of the diseases has been described in two large samples (K€ olker et al 2015a;K€ olker et al 2015b;Waisbren et al 2016). These reports highlight that IT-IEM have a major impact on patients' lives: Strict diet, daily intake of medication, the permanent risk of severe metabolic crises, and neurological sequelae are only some of the issues that the growing number of long-term surviving patients and their families face.…”
Section: Introductionmentioning
confidence: 99%
“…Renal involvement in childhood liver diseases is not unusual in the context of genetic conditions with multisystem involvement, such as Alagille syndrome [2, 3] and metabolic disorders either related to an enzymatic defect in the liver causing renal impairment, such as primary hyperoxaluria, or other conditions, such as organic acidurias, urea cycle disorders or glycogen storage disorders, among others. [4, 5]. However, these are known associations of renal involvement in patients with liver disease.…”
Section: Introductionmentioning
confidence: 99%