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Correction to: Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
N. Blau et al. (eds.), Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases,
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Chapter
Knowledge Base of Inborn Errors of Metabolism (IEMbase): A Practical Approach
Here we give an overview of the inborn errors of metabolism knowledge base, or IEMbase, a comprehensive electronic repository of the IEMs described in this book. Developed as a companion application to this te...
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Disorders of Folate Metabolism and Transport
Folates play an essential role in one-carbon methyl transfer reactions, mediating several biological processes including DNA synthesis, regulation of gene expression through methylation and formylation reactio...
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Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
Most countries now identify hyperphenylalaninemia (HPA) immediately after birth through national neonatal screening programs. Rapid identification of HPA allows timely diagnosis of the underlying enzyme defect...
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Simple Tests and Routine Chemistry
A variety of routine chemistry tests are useful in both specialist and non-specialist laboratories to assist in the differential diagnosis of inherited metabolic disorders. We provide a list of metabolic disea...
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Article
Phenylketonuria
Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an autosomal recessive disorder of phenylalanine metabolism, in which especially high phenylalanine concentrations cause brain...
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Article
Open AccessCan untreated PKU patients escape from intellectual disability? A systematic review
Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated...
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Article
Think big — think omics
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Article
Open AccessText-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis
Phenomics is the comprehensive study of phenotypes at every level of biology: from metabolites to organisms. With high throughput technologies increasing the scope of biological discoveries, the field of pheno...
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Article
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency
The tetrahydrobiopterin (BH4) cofactor is essential for the activity of various enzymes, including phenylalanine (Phe) hydroxylase. In phenylketonuria (PKU) patients, who are chronically exposed to high Phe level...
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Article
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient
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Article
Open AccessConsensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. ...
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Article
Open AccessCRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model
The CRISPR/Cas9 system is a recently developed genome editing technique. In this study, we used a modified CRISPR system, which employs the fusion of inactive Cas9 (dCas9) and the FokI endonuclease (FokI-dCas9) t...
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Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice
Tetrahydrobiopterin (BH4) is an essential cofactor for the aromatic amino acid hydroxylases, alkylglycerol monooxygenase, and nitric oxide synthases (NOS). Inborn errors of BH4 metabolism lead to severe insuffici...
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Open AccessDiagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results
To avoid potentially severe outcomes, phenylketonuria (PKU) must be detected as soon as possible after birth and managed with life-long treatment. A questionnaire-based survey was performed to document diagnos...
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Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency
Sepiapterin reductase (SR) deficiency is a rare autosomal recessively inherited error of tetrahydrobiopterin (BH4) biosynthesis, resulting in disturbed dopaminergic and serotonergic neurotransmission. The clinica...
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Chapter
Disorders of Glutathione and γ-Glutamyl Cycle
The γ-glutamyl cycle, comprising six enzymes, harbors four hereditary defects: γ-glutamylcysteine synthetase, glutathione synthetase, γ-glutamyl transpeptidase, and 5-oxoprolinase. Defects have also been ident...
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Hyperoxalurias
Hyperoxaluria was often shown to be an important promoter of crystallization. Urinary oxalate is mostly of endogenous origin, only ~10 % derive from the daily nutritional intake. Primary causes are distinguish...
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Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
Hyperphenylalaninemia (HPA), a disorder of phenylalanine catabolism, is caused primarily by a deficiency of the hepatic phenylalanine-4-hydroxylase (PAH) or by one of the enzymes involved in its cofactor tetra...
