Abstract
Hyperprolinemia type I (HPI) is an autosomal recessive metabolic disorder caused by defects in proline oxidase. We herein describe a case of a patient with HPI and harboring the NM_016335.4 (PRODH_v001):c.1397 C > T (p.T466M) mutation and polymorphisms in the PRODH gene, as detected by plasma amino acid analysis and Sanger sequencing. The patient presented with short stature, carbohydrate-rich dietary preferences, and mild intellectual disability that was suggestive of a neurodevelopmental or learning disorder.
Highlights
Hyperprolinemia type I (HPI) is an autosomal recessive metabolic disorder caused by defects in proline oxidase (POX, EC: 1.5.99.8), called proline dehydrogenase (PRODH)
The PRODH gene is located on chromosome 22 (22q11.21) and encodes the POX enzyme, which converts proline to pyrroline-5-carboxylate (P5C) in mitochondria
Patients with HPI may present with seizures, intellectual disability, language delay, autism spectrum disorder (ASD), schizophrenia, and/or bipolar disorder
Summary
Rina Hama[1], Jun Kido 1,2 ✉, Keishin Sugawara[2], Toshiro Nakamura[3] and Kimitoshi Nakamura[1,2]. An intelligence assessment using the Wechsler Intelligence Scale for Children-Fourth Edition (WISC-IV) at the age of 6 years and 3 months revealed the following: a score of 83 in Full Scale IQ (FSIQ), 80 in Verbal Comprehension Index (VCI), 115 in Perceptual Reasoning Index (PRI), 68 in Working Memory Index (WMI), and 78 in Processing Speed Index (PSI). These characteristics suggest a tendency toward neurodevelopmental disorders, including autism, attention-deficit hyperactivity disorder, and learning disorders. Activities of antioxidant enzymes, and induces lipid peroxidation in the blood of rats[13]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
