SCIENTIFIC PROGRAM                      Download Program here

Monday, October 17, 2022

9:00 Opening of the meeting. “Joan Plaça” Auditorium, Jardín Botánico de Valencia (Calle Quart 80)

9:15 Session 1: Background and Molecular bases of ureagenesis defects and allied disorders

7 lectures of 20 min, each followed by 10 min discussion & 1 concise talk (10 min + 5 min disc.)

Häberle Johannes – After 90 years of knowing the ureagenesis pathway: The “Unknowns”
Dionisi-Vici Carlo – Urea cycle defects and related disorders. Similarities and differences: searching for          explanations
Soria Leandro R – O-GlcN-acylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis
Simpson Kara – Concise talk – Curation of sequence variants in urea cycle genes

11:00 – 11:30 Coffee break
Morizono Hiroki – Using datamining to uncover causes for the low prevalence of N-acetylglutamate deficiency and understanding transcriptional regulation of urea cycle genes

Rubio Vicente – The structure of human Δ1-pyrroline-5-carboxylate synthetase explains the two presentations and two modes of inheritance of the deficiency of this enzyme

Palacín Manuel – Learning about heteromeric amino acid transporters from Lysinuric protein intolerance (LPI)
Ramón-Maiques Santiago – The structure of CAD as a key tool to understand CAD deficiency

13:30 Lunch (picnic)

15:15 Session 2: Pathophysiological insight and novel roles of urea cycle enzymes

6 lectures of 20 min, each followed by 10 min discussion & 2 concise talks (10 min + 5 min disc.)

Baruteau Julien – Neurodegenerative phenotype and neuronal mitochondrial dysfunction are new features of the cerebral disease in argininosuccinic aciduria
Soria Leandro R – Impaired nuclear glycogen metabolism affects liver homeostasis in argininosuccinic aciduria
Felipo Vicente – Pathophysiological bases of the neurotoxicity of ammonia
Caldovic Ljubica – Biomarkers for biochemical, pathophysiological and neurological effects of high ammonia
concentration on the brain

Silva Margarida F B – Concise talk – Investigational targeted metabolomics is key to understand biomarkers of urea cycle dysregulation and effects of hyperammonemia

17:30 – 18:00 Coffee break

Giroud-Gerbetant Judith – Insight into the hematological abnormalities in Lysinuric Protein Intolerance (LPI):
Reduced cationic amino acid transport causes HIF downregulation via dysregulated OXPHOS metabolism

Erez Ayelet – Moonlighting functions of the urea cycle enzyme argininosuccinate synthetase 1 (ASS1) in health and disease
Makris Georgios – Concise talk – Ectopic role of ureagenesis enzymes: The example of CPS1 in lung tumors


Tuesday, October 18, 2022

9:00 Session 3: In vitro and in vivo tools and models for disease assessment, modelling and therapy

6 lectures of 20 min, each followed by 10 min discussion & 2 concise talks (10 min + 5 min disc.)

Poms Martin – Stable isotope tracing as a method to characterize in vivo ureagenesis function
Marco-Marín Clara – Pure recombinant proteins to assess disease-causing potential of missense mutations in UCDs and allied disorders
Makris Georgios – Cellular models for urea cycle functionality studies
Del Caño-Ochoa Francisco – Concise talk – A cellular assay for rapid assessment of disease-causing potential of CAD mutations
Artuch Rafael – Concise talk – Biomedical Point-of-Care microanalyzer for potentiometric determination of
ammonium ion in plasma and blood

11:00 – 11:30 Coffee break

Desviat Lourdes R – Applications of RNA drugs to urea cycle defects and other inherited metabolic diseases
Bort Roque – Direct fibroblast to hepatocyte conversion as a key tool for X-inactivation selection in a female patient with ornithine transcarbamylase deficiency (OTCD)
Touramanidou Loukia – In vivo lentiviral gene therapy for argininosuccinic aciduria and optimization of liver

13:00 Lunch (picnic)

15:00 Introduction to the Spotlight. Johannes Häberle (5 min) / Barbara Yu (Citrin Foundation) (25 min)
15:30 Session 4: Molecular and pathophysiological bases of Citrin Deficiency
4 long lectures
15:30 Keynote Lecture – Walker John (Nobel Laureate) Citrin deficiency and the Citrin Foundation
16:20 Kunji Edmund RS – Pathogenic variants of the mitochondrial aspartate/glutamate carrier cause citrin
deficiency by different mechanisms

17:00 Satrústegui Jorgina & Contreras Laura – Aralar partially rescues phenotype of citrin-KO mitochondria

17:40 – 18:10 Coffee break

18:10 Qadri Sami / Yki-Jarvinen Hannele – Citrin deficiency-associated liver disease (tentative title)
18:40 Session 5: Citrin deficiency, Clinical insight into a pan-ethnic disease

3 lectures of 20 min, each followed by 10 min discussion, & one concise talk (10 min +5 min discussion)

18:40 Nakamura Kimitoshi – Nationwide outcome survey for citrin deficiency in Japan
19:10 Yazaki Masahide – Clinical characteristics of CTLN2 patients and therapeutic experiences
19:40 Wortmann Saskia – CITRIN DEFICIENCY – an underrecognized potentially life-threatening disease in Europe

20:10 Saikat Santra – Concise talk – Citrin deficiency in the UK with a focus on the c.1763G>A mutation
20:25 Closing of the spotlight. Barbara Yu


Wednesday, October 19, 2022

9:00 Session 6: Non-classical ureagenesis defects and related disorders

3 lectures of 20 min, each followed by 10 min discussion & 3 concise talks (10 min + 5 min disc.)

Wortmann Saskia – The clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation
Sánchez-Pintos Paula – Concise talk – Could uridine in urine be a useful biomarker for selective screening of CAD deficiency?
Correcher Patricia – Concise talk – A Spanish patient with carbonic anhydrase 5A (CAVA) deficiency illustrates the key traits of this disorder
Al Murshedi Fathiya – Clinical, biochemical and molecular description of eighteen patients with carbonic anhydrase VA (CAVA) deficiency
Boffa Iolanda – AAV-mediated liver-directed gene therapy corrects the retinal degeneration of gyrate atrophy of the choroid and retina.
Del Arco Araceli – Concise talk – Aralar/AGC1 deficiency: the role of brain aralar and malate aspartate shuttle in metabolic regulation

11:15 – 11:45 Coffee break

11:45 Session 7: Innovative experimental therapies

6 lectures of 20 min, each followed by 10 min discussion

Laemmle Alexander – Pharmacological chaperones as potential new treatment for urea cycle disorders
Gurung Sonam – mRNA therapy restores ureagenesis and corrects liver oxidative stress in argininosuccinic aciduria

Wang Lili – AAV-meganuclease-mediated gene targeting achieves efficient and sustained transduction in newborn and infant macaque liver
Harding Cary O – Final safety and efficacy of a phase 1/2 trial of DTX301 in adults with late-onset OTC deficiency

13:45 Lunch
Batzios Spyros – Arginase I deficiency: a journey from disease pathogenesis to a novel treatment modality
Summar Marshall – Citrulline and its many uses as a drug (tentative title)

16:30 Session 8: Clinical insight and current therapies

4 lectures of 20 min, each followed by 10 min discussion & 4 concise talks

Stepien Karolina M – The management and outcomes of pregnancies in females with aminoacid disorders
presenting with hyperammonaemia

Ah Mew Nicholas – Reflections of a Teenager: The Urea Cycle Disorders Consortium at 19 - Lessons Learned, Present Projects, and Challenges for Future Clinical Trials
Hattori Yusuke – Concise talk – Report of the nationwide study about patients with urea cycle disorders in Japan

17:45 – 18:15 Coffee break

Kido Jun – Role of liver transplantation in urea cycle disorders: From the results of nation-wide study in Japan
Andrade-Guerrero José – Liver transplantation decisions in urea cycle disorders: a reference hospital experience

Pintos-Morell Guillem – Concise talk – Long-term follow-up after successful liver transplantation in two patients with arginase 1 deficiency
Bernal Ana C – Concise talk – Late onset UCD, an unsuspected pediatric disease
MacLeod Erin – Concise talk – Validation of a novel food photography method for dietary assessment in individuals with urea cycle disorders

20:00 Summing up and end of meeting