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[Type I Hyperprolinemia - What about the Kidney?].
G Ital Nefrol
December 2023
Dipartimento di Sanità Pubblica, Università degli Studi di Napoli "Federico II", Napoli, Italia.
Hyperprolinemia is a rare genetic condition due to mutations in proline metabolic pathway. Type I Hyperprolinemia (HPI) typically causes neuropsychiatric disorders, and diagnosis is usually confirmed in pediatric population with suggestive neuropsychiatric involvement by elevated serum proline levels and elevated urinary proline, hydroxyproline, and glycine levels. The possible coexistence of nephropathy in patients with HPI, often specified as malformative urinary disease, is often mentioned.
View Article and Find Full Text PDF[Hyperprolinemia type Ⅰ caused by PRODH gene variation: 2 cases report and literature review].
Zhonghua Er Ke Za Zhi
October 2023
Henan Key Laboratory of Pediatric Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450018, China.
Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I.
Mov Disord Clin Pract
August 2023
Neurology Department Hospital Kuala Lumpur, Ministry of Health Kuala Lumpur Malaysia.
Pyrroline-5-carboxylate reductase 2 (PYCR2) deficiency causes hereditary spastic paraplaegia in late childhood.
Eur J Paediatr Neurol
May 2023
Department of Pediatrics, Kartal Dr. Lutfi Kirdar City Hospital, Istanbul, Turkiye.
Objectives: PYCR2 gene variants are extremely rare condition which is associated with hypomyelinating leukodystrophy type 10 with microcephaly (HLD10). The aim of the present study is to report the clinical findings of patients having novel PYCR2 gene variant that manifest Hereditary Spastic Paraplegia (HSP) is the only symptom without hypomyelinating leukodystrophy. This is the first study that report the PYCR2 gene variants as a cause of HSP in late childhood.
View Article and Find Full Text PDFEpilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review.
Children (Basel)
March 2023
Child Neurology and Psychiatry Unit, Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy.
Background: Vitamin B6-dependent epilepsies include treatable diseases responding to pyridoxine or pyridoxal-5Iphosphate (ALDH7A1 deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinemia type II and hypophosphatasia and glycosylphosphatidylinositol anchor synthesis defects).
Patients And Methods: We conducted a systematic review of published pediatric cases with a confirmed molecular genetic diagnosis of vitamin B6-dependent epilepsy according to PRISMA guidelines. Data on demographic features, seizure semiology, EEG patterns, neuroimaging, treatment, and developmental outcomes were collected.
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