ArticlePediatrics international : official journal of the Japan Pediatric Society2014
Biochemical and clinical features of hereditary hyperprolinemia.
Article in Pediatrics international : official journal of the Japan Pediatric Society, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 43 citations in OpenAlex.
- [New interdisciplinary S3 guidelines on deletion syndrome 22q11.2, a genetic disease predisposing to neuropsychiatric morbidity].Der Nervenarzt · 2026Review
- Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.Journal of clinical medicine · 2025Review
- Beyond Protein Building Blocks: A Review of Biological Roles and Therapeutic Potential of Free Amino Acids.International journal of molecular sciences · 2025Review
- Case Report: Hyperprolinemia type II in a child with autism spectrum disorder andFrontiers in pediatrics · 2025Article
- Factors associated with cerebral palsy among children in Hawassa University comprehensive specialized hospital: Case-control study.PloS one · 2025Article
- L-Proline Alters Energy Metabolism in Brain Cortical Tissue Slices.Neurochemical research · 2024Article
- LC-MS-Based Simultaneous Determination of Biomarkers in Dried Urine Spots for the Detection of Cofactor-Dependent Metabolic Disorders in Neonates.Journal of separation science · 2024Article
- Precision diagnosis and treatment of vitamin metabolism-related epilepsy.Acta epileptologica · 2024Review
- Review: Genes Involved in Mitochondrial Physiology Within 22q11.2 Deleted Region and Their Relevance to Schizophrenia.Schizophrenia bulletin · 2023Article
- Myoclonus-Ataxia Syndrome Associated with Hyperprolinemia Type I.Movement disorders clinical practice · 2023Article
- Proline Metabolism in Neurological and Psychiatric Disorders.Molecules and cells · 2022Review
- Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant.Metabolic brain disease · 2021Article
- Effect of Proline on Cell Death, Cell Cycle, and Oxidative Stress in C6 Glioma Cell Line.Neurotoxicity research · 2021Article
- Incomplete proline catabolism drives premature sperm aging.Aging cell · 2021Article
- Protective effects of aqueous extract from Gei Herba on blood-deficiency mice: insights gained by a metabolomic approach.RSC advances · 2020Article
- Novel variants in a patient with late-onset hyperprolinemia type II: diagnostic key for status epilepticus and lactic acidosis.BMC neurology · 2019Article
- Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1.Journal of neurosciences in rural practice · 2019Article
- In the line-up: deleted genes associated with DiGeorge/22q11.2 deletion syndrome: are they all suspects?Journal of neurodevelopmental disorders · 2019Review
- Actual Insights into Treatable Inborn Errors of Metabolism Causing Epilepsy.Journal of pediatric neurosciencesReview
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
There are two classifications of hereditary hyperprolinemia: type I (HPI) and type II (HPII). Each type is caused by an autosomal recessive inborn error of the proline metabolic pathway. HPI is caused by an abnormality in the proline-oxidizing enzyme (POX). HPII is caused by a deficiency of Δ-1-pyrroline-5-carboxylate (P5C) dehydrogenase (P5CDh). The clinical features of HPI are unclear. Nephropathy, uncontrolled seizures, mental retardation or schizophrenia have been reported in HPI, but a benign phenotype without neurological problems has also been reported. The clinical features of HPII are also unclear. In addition, the precise incidences of HPI and HPII are unknown. Only two cases of HPI and one case of HPII have been identified in Japan through a questionnaire survey and by a study of previous reports. This suggests that hyperprolinemia is a very rare disease in Japan, consistent with earlier reports in Western countries. The one case of HPII found in Japan was diagnosed in an individual with influenza-associated encephalopathy. This suggests that HPII might reduce the threshold for convulsions, thereby increasing the sensitivity of individuals with influenza-associated encephalopathy. The current study presents diagnostic criteria for HPI and HPII, based on plasma proline level, with or without measurements of urinary P5C. In the future, screening for HPI and HPII in healthy individuals, or patients with relatively common diseases such as developmental disabilities, epilepsy, schizophrenia or behavioral problems will be important.
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