Publications by authors named "I Knerr"
We present a case series of seven patients (5 males, 2 females, aged 7-38 yrs.) in Ireland with biopterin metabolism disorder. Five individuals had been diagnosed with dihydropteridine reductase (DHPR) deficiency and two with pyruvoyl tetrahydropterin synthase (PTPS) deficiency.
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- This study analyzes the protein and amino acid (AA) content of various fruits, vegetables, and starchy roots to help manage dietary restrictions for individuals with amino acid-related inherited metabolic disorders (IMDs) and urea cycle disorders (UCDs).
- Utilizing high-performance liquid chromatography (HPLC) and the Dumas method on 165 food samples, the research finds that dried fruits and legumes have the highest protein and AA levels, while fruits and cruciferous vegetables have the lowest.
- The results aim to provide valuable information for clinical practice, improving diet quality and metabolic control for those affected by these disorders.
Succinic semialdehyde dehydrogenase deficiency (SSADHD) (OMIM #271980) is a rare autosomal recessive metabolic disorder caused by pathogenic variants of ALDH5A1. Deficiency of SSADH results in accumulation of γ-aminobutyric acid (GABA) and other GABA-related metabolites. The clinical phenotype of SSADHD includes a broad spectrum of non-pathognomonic symptoms such as cognitive disabilities, communication and language deficits, movement disorders, epilepsy, sleep disturbances, attention problems, anxiety, and obsessive-compulsive traits.
View Article and Find Full Text PDFClassic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsychological/social emotional difficulties, neurological symptoms, and abnormalities in neuroimaging and electrophysiological assessments are frequently reported in this group of patients, with an enormous individual variability. In this review, we describe the role of impaired galactose metabolism on brain dysfunction based on state of the art knowledge.
View Article and Find Full Text PDFPhenylketonuria (PKU) is an inherited disorder of protein metabolism. It is generally treated using dietary management with limited intake of phenylalanine (Phe). Partial breastfeeding (BF) is encouraged among mothers of infants with PKU, together with a Phe-free mixture of synthetic amino acids.
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