Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations

Duarte, Marco Antônio Húngaro; Afonso, Joana; Moreira, Ana; Antunes, Diana; Ferreira, Cristina; Correia, Hildeberto; Marques, Margarida; Sequeira, Sílvia

doi:10.1016/j.braindev.2017.01.008

Cited by 9 publications

(12 citation statements)

References 11 publications

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“…Three studies identified PRODH mutations on the residual allele in 22q11DS patients (Tables 1-3; Afenjar et al, 2007;Duarte et al, 2017;Raux et al, 2007). Twenty-nine 22q11DS patients were hyperprolinemic and had a second (i.e., on the residual allele) mutation in PRODH.…”

Section: Studies Including Hyperprolinemia Cases In Patients With 22q11dsmentioning

confidence: 99%

“…Twenty-nine 22q11DS patients were hyperprolinemic and had a second (i.e., on the residual allele) mutation in PRODH. Of these patients, 24 had a developmental delay and/or intellectual disability (proline 339-1,275 μmol/L) and IQ ranged between 44 and 70 (Table 5) (Afenjar et al, 2007;Duarte et al, 2017;Raux et al, 2007). Eleven patients had an additional psychosis spectrum disorder, including seven patients with schizophrenia, one patient with schizoaffective disorder, two patients with atypical psychosis and one with schizotypal personality disorder (Table 5) (Duarte et al, 2017;Raux et al, 2007).…”

Section: Studies Including Hyperprolinemia Cases In Patients With 22q11dsmentioning

confidence: 99%

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Psychiatric phenotypes associated with hyperprolinemia: A systematic review

Namavar

Duineveld

Both

et al. 2021

American J of Med Genetics Pt B

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Hyperprolinemia Type I and II are genetic metabolic disorders caused by disrupted proline degradation. It has been suggested that hyperprolinemia is associated with increased risk of developmental and mental disorders but detailed information on the psychiatric phenotype in hyperprolinemic patients is limited. Following PRISMA guidelines, we carried out a systematic review to clarify psychiatric phenotypes in patients with hyperprolinemia. We screened 1753 studies and included 35 for analysis, including 20 case reports and 15 case-control and cohort studies. From these studies, a common psychiatric phenotype is observed with a high prevalence of developmental delay, intellectual disability, autism spectrum disorders, and psychosis spectrum disorders. In most cases, a genetic cause of hyperprolinemia was known, these included mutations in the PRODH and ALDH4A1 genes and deletions of chromosome 22q11.2. No evidence for a biochemical phenotype-clinical phenotype correlation was found; that is, no association between higher proline levels and specific psychiatric phenotypes was observed. This suggests that genomic and environmental factors are likely to contribute to clinical outcomes. More studies are needed to clarify whether hyperprolinemia is a primary causal factor underlying the increased risk of developing psychiatric disorders seen in patients with hyperprolinemia, or whether

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Section: Studies Including Hyperprolinemia Cases In Patients With 22q11dsmentioning

confidence: 99%

Section: Studies Including Hyperprolinemia Cases In Patients With 22q11dsmentioning

confidence: 99%

Psychiatric phenotypes associated with hyperprolinemia: A systematic review

Namavar

Duineveld

Both

et al. 2021

American J of Med Genetics Pt B

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“…On the other hand, the perturbed metabolism of l-Pro can result in hereditary disorders characterized by an excessive level of l-Pro in the blood, known as hyperprolinemia type I (due to the deficiency of the enzyme proline oxidase) or type II (due to its complete lack) [35,36]. Based on clinical results, certain researchers relate hyperprolinemia to schizophrenia [37,38].…”

Section: Introductionmentioning

confidence: 99%

Impact of D2O on peptidization of l-proline

Fulczyk

Łata

Talik

et al. 2019

Reac Kinet Mech Cat

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This is our follow-up study carried out in an order to collect experimental evidence regarding the impact of heavy water (D2O) on the spontaneous oscillatory peptidization of l-proline (l-Pro). Our earlier studies have been focused on the two sulfur-containing proteinogenic α-amino acids, i.e., l-cysteine (l-Cys) and l-methionine (l-Met), and it seemed interesting to assess the effect induced by D2O on one more proteinogenic α-amino acid, i.e., l-Pro. It needs to be added that unlike l-Met, but similar to l-Cys, the oscillatory peptidization of l-Pro dissolved in the organic-aqueous solvent characterizes with the circadian rhythm. As analytical techniques, we used high-performance liquid chromatography with the evaporative light-scattering detection (HPLC-ELSD), mass spectrometry (MS), scanning electron microscopy (SEM), and turbidimetry. The obtained results can in certain sense be viewed as analogous to those earlier reported for l-Cys and l-Met by demonstrating that heavy water considerably hampers the oscillatory peptidization of l-Pro. However, an unexpected observation was also made than unlike the cases with l-Cys and l-Met, the observed hampering effect of D2O on the oscillatory peptidization of l-Pro is not monotonously dependent on the concentration of D2O in the system, but it is the strongest pronounced for 10% (v/v) D2O in the employed binary methanol–water solvent (with the investigated proportions of D2O in this solvent changing from 0 to 30%). Although we have no rational explanation for this striking effect, we believe that it should not pass unnoticed and therefore it is emphasized in this study. Maybe this firm quantitative result will prove an inspiration for future researchers interested in getting a deeper insight into the role of D2O in life processes, and more specifically in the kinetic and the mechanistic aspects thereof.

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“…The de ciency of the P5C and P5CD enzymes leads to hyperprolinemia type I and type II, respectively. PRODH is located in the 22q11 chromosomal region, where microdeletions, which are responsible for DiGeorge (velocardiofacial) syndrome, can present with psychiatric disorders [2]. Clinical ndings that develop due to HPI vary.…”

Section: Introductionmentioning

confidence: 99%

Antioxidant therapy in a patient with Hyperprolinemia type I presented with mild neuromotor retardation and speech disturbance

Ersoy

Yılmaz

Ceylaner³

2020

Preprint

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Background: Hyperprolinemia type 1 (HPI) is an autosomal recessive inborn disease caused by mutations/deletions of PRODH gene, which is located on chromosome 22q11. The clinic spectrum involves mainly delayed psychomotor development, mild-to-severe mental retardation, neuropsychiatric symptoms and epilepsy. Although HPI can easily be diagnosed in patients undergoing metabolic screening tests, there is no effective therapy protocol in use. There are studies showing that it does most of its clinical findings by disrupting mitochondria function. Case report: We present a long-term follow-up of a four-year-old girl with mild neuromotor retardation and speech disturbance, diagnosed with HPI and treated with antioxidant therapy (vitamin C, CoenzymeQ10, vitamin B complex and L-carnitine) for six years. It has been shown that antioxidant therapy decreases proline levels properly and provides clinical improvement.

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Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations

Cited by 9 publications

References 11 publications

Psychiatric phenotypes associated with hyperprolinemia: A systematic review

Psychiatric phenotypes associated with hyperprolinemia: A systematic review

Impact of D2O on peptidization of l-proline

Antioxidant therapy in a patient with Hyperprolinemia type I presented with mild neuromotor retardation and speech disturbance

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