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Article ; Online: Inherited Metabolic Disorders in Adults: A view from Saudi Arabia.

Sulaiman, Raashda A / Al-Owain, Mohammed

2018 Volume 62, Issue 11, Page(s) 103562

Abstract: The incidence of inherited metabolic disorders (IMD) in Saudi Arabia is one of the highest in the world. Early diagnosis and advances in the treatment of these diseases have led to improved survival of these patients resulting in a rapidly growing number ...

Abstract	The incidence of inherited metabolic disorders (IMD) in Saudi Arabia is one of the highest in the world. Early diagnosis and advances in the treatment of these diseases have led to improved survival of these patients resulting in a rapidly growing number of adults with IMD. This is the first report from a single tertiary care center, on the experience of managing a large cohort of adult patients with a wide range of IMD. We describe the common IMD seen in adult patients in Saudi Arabia, highlighting the variations from the Caucasian populations, and unique challenges in providing care to these adults. We mention the pitfalls causing the delay in the diagnosis particularly in cases of late-onset IMD in adults. We also discuss some unusual complications seen in adult patients during the course of their disease. We describe the role of genetic prevention services in Saudi Arabia and the importance of research in this field.
MeSH term(s)	Adolescent ; Adult ; Age of Onset ; Early Diagnosis ; Female ; Humans ; Male ; Metabolic Diseases/diagnosis ; Metabolic Diseases/epidemiology ; Metabolic Diseases/genetics ; Metabolic Diseases/pathology ; Middle Aged ; Saudi Arabia ; Young Adult
Language	English
Publishing date	2018-10-26
Publishing country	Netherlands
Document type	Journal Article ; Review
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2018.10.014
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Article ; Online: Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.

Al-Mayouf, Sulaiman M / AlTassan, Ruqaiah S / AlOwain, Mohammed A

Clinical rheumatology

2020 Volume 39, Issue 11, Page(s) 3511–3515

Abstract: Genetic defect of phosphatase and tensin homolog (PTEN) gene might play a role in B cell hyperactivity and result in the development of systemic lupus erythematosus (SLE), while transaldolase deficiency has a spectrum of clinical features including ... ...

Abstract	Genetic defect of phosphatase and tensin homolog (PTEN) gene might play a role in B cell hyperactivity and result in the development of systemic lupus erythematosus (SLE), while transaldolase deficiency has a spectrum of clinical features including autoimmune endocrinopathy. Herein, we identified a novel phenotype in a girl presenting with clinical and laboratory findings consistent with SLE. Exome sequencing identified pathogenic heterozygous variant in PTEN gene (NM_000314: exon 6: c.518G > C: p. R173P) and homozygous variant in TALDO1 gene (NM_006755: exon 6: c.793C del: p. Q265f). Our report highlights the association of PTEN mutation and autoimmunity and the possibility that transaldolase deficiency may be indirectly involved in the development of SLE.
MeSH term(s)	Carbohydrate Metabolism, Inborn Errors ; Female ; Homozygote ; Humans ; Lupus Erythematosus, Systemic/genetics ; PTEN Phosphohydrolase ; Phenotype ; Transaldolase/deficiency
Chemical Substances	Transaldolase (EC 2.2.1.2) ; PTEN Phosphohydrolase (EC 3.1.3.67) ; PTEN protein, human (EC 3.1.3.67)
Language	English
Publishing date	2020-06-06
Publishing country	Germany
Document type	Case Reports ; Journal Article ; Review
ZDB-ID	604755-5
ISSN	1434-9949 ; 0770-3198
ISSN (online)	1434-9949
ISSN	0770-3198
DOI	10.1007/s10067-020-05205-1
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Article: Identification of the

Alfadhel, Majid / Umair, Muhammad / Almuzzaini, Bader / Asiri, Abdulaziz / Al Tuwaijri, Abeer / Alhamoudi, Khaloud / Alyafee, Yusra / Al-Owain, Mohammed

Molecular syndromology

2021 Volume 12, Issue 3, Page(s) 133–140

Abstract: Ciliopathies constitute heterogeneous disorders that result from mutations in ciliary proteins. These proteins play an important role in the development of organs, physiology, and signaling pathways, and sequence variations in the genes encoding these ... ...

Abstract	Ciliopathies constitute heterogeneous disorders that result from mutations in ciliary proteins. These proteins play an important role in the development of organs, physiology, and signaling pathways, and sequence variations in the genes encoding these proteins are associated with multisystem disorders. In this study, we describe a severe ciliopathy disorder that segregates in an autosomal recessive manner in a nonconsanguineous Saudi family. The proband exhibited features such as cholestasis, cystic dilatation of intrahepatic biliary ducts, diabetes insipidus, dysmorphic facial features, optic atrophy, pituitary hypoplasia, hydrocephalus, aqueductal stenosis, hyperextensible knee joints, bilateral knee dislocation, polydactyly, and syndactyly. Whole-genome sequencing and Sanger sequencing revealed a homozygous splice site variant (c.4-1G>C; NM_024926.3) in the tetratricopeptide repeat domain 26 (
Language	English
Publishing date	2021-05-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2546218-0
ISSN	1661-8777 ; 1661-8769
ISSN (online)	1661-8777
ISSN	1661-8769
DOI	10.1159/000513829
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Article ; Online: Autism spectrum disorders and inborn errors of metabolism: an update.

Ghaziuddin, Mohammad / Al-Owain, Mohammed

Pediatric neurology

2013 Volume 49, Issue 4, Page(s) 232–236

Abstract: Background: Autism spectrum disorder is characterized by social communicative deficits with restricted interests occurring in about 1% of the population. Although its exact cause is not known, several factors have been implicated in its etiology, ... ...

Abstract	Background: Autism spectrum disorder is characterized by social communicative deficits with restricted interests occurring in about 1% of the population. Although its exact cause is not known, several factors have been implicated in its etiology, including inborn errors of metabolism. Although relatively uncommon, these disorders frequently occur in countries with high rates of consanguinity and are often associated with behavioral problems, such as hyperactivity and aggression. The aim of this review is to examine the association of autism with these conditions. Method: A computer-assisted search was performed to identify the most common inborn errors of metabolism associated with autism. Results: The following disorders were identified: phenylketonuria, glucose-6-phosphatase deficiency, propionic acidemia, adenosine deaminase deficiency, Smith-Lemli-Opitz syndrome and mitochondrial disorders, and the recently described branched chain ketoacid dehydrogenase kinase deficiency. Conclusion: The risk of autistic features is increased in children with inborn errors of metabolism, especially in the presence of cognitive and behavioral deficits. We propose that affected children should be screened for autism.
MeSH term(s)	Animals ; Child ; Child Development Disorders, Pervasive/diagnosis ; Child Development Disorders, Pervasive/epidemiology ; Child Development Disorders, Pervasive/genetics ; Humans ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/epidemiology ; Metabolism, Inborn Errors/genetics ; Smith-Lemli-Opitz Syndrome/diagnosis ; Smith-Lemli-Opitz Syndrome/epidemiology ; Smith-Lemli-Opitz Syndrome/genetics
Language	English
Publishing date	2013-10
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	639164-3
ISSN	1873-5150 ; 0887-8994
ISSN (online)	1873-5150
ISSN	0887-8994
DOI	10.1016/j.pediatrneurol.2013.05.013
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Article ; Online: The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.

Mushiba, Aziza M / Faqeih, Eissa / Saleh, Mohammed A / Ramzan, Khushnooda / Imtiaz, Faiqa / Al-Owain, Mohammed / Alhashem, Amal M / Alswaid, Abdulrahman

American journal of medical genetics. Part A

2021 Volume 185, Issue 8, Page(s) 2455–2463

Abstract: Pycnodysostosis is characterized by short stature, osteosclerosis, acro-osteolysis, increased tendency of fractures, and distinctive dysmorphic features. It is a rare autosomal recessive disease caused by biallelic CTSK mutations. The clinical details of ...

Abstract	Pycnodysostosis is characterized by short stature, osteosclerosis, acro-osteolysis, increased tendency of fractures, and distinctive dysmorphic features. It is a rare autosomal recessive disease caused by biallelic CTSK mutations. The clinical details of 18 patients from Saudi Arabia were reviewed. Short stature, osteopetrosis, acro-osteolysis, and distinctive facial dysmorphism were documented in all cases. Our results highlight the significant complications associated with this disease. The large anterior fontanelle is one of the cardinal signs of this disease; however, half of our patients had small fontanelles and a quarter had craniosynostosis, which caused optic nerve compression. Sleep apnea was of the major complications in three patients. Bone fracture can be a presenting symptom, and in our patients it mainly occurred after the age of 3 years. Bone marrow suppression was seen in a single patient of our cohort who was misdiagnosed initially with malignant osteopetrosis. In this study, we also describe two novel (c.5G > A [p.Trp2Ter], c.538G > A [p.Gly180Ser]) and two reported (c.244-29 A > G, c.830C > T [p.Ala277Val]) CTSK mutations. Our results indicate that the recurrent intronic variant, c.244-29 A > G is likely to be a founder mutation, as it was found in 78% (14/18 patients) of our cohort belonging to the same tribe.
MeSH term(s)	Alleles ; Cathepsin K/genetics ; Child, Preschool ; Consanguinity ; Facies ; Female ; Genetic Association Studies/methods ; Genetic Predisposition to Disease ; Genetic Variation ; Genotype ; Humans ; Imaging, Three-Dimensional ; Male ; Mutation ; Pedigree ; Phenotype ; Pycnodysostosis/diagnosis ; Pycnodysostosis/genetics ; Radiography ; Saudi Arabia ; Tomography, X-Ray Computed
Chemical Substances	CTSK protein, human (EC 3.4.22.38) ; Cathepsin K (EC 3.4.22.38)
Language	English
Publishing date	2021-05-08
Publishing country	United States
Document type	Case Reports ; Research Support, Non-U.S. Gov't
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62230
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Article ; Online: Emergency management of critically ill adult patients with inherited metabolic disorders.

Sulaiman, Raashda A / Alali, Abdulaziz / Hosaini, Sulaiman / Hussein, Maged / Pasha, Farooq / Albogami, Muneerah / Sheikh, Aamir N / AlSayed, Moeen / Al-Owain, Mohammed

The American journal of emergency medicine

2022 Volume 55, Page(s) 138–142

Abstract: Introduction: An increasing number of pediatric patients with inherited metabolic disorders are reaching adulthood. In addition, many patients are diagnosed for the first time in adult life due to improved awareness of these disorders and the ... ...

Abstract	Introduction: An increasing number of pediatric patients with inherited metabolic disorders are reaching adulthood. In addition, many patients are diagnosed for the first time in adult life due to improved awareness of these disorders and the availability of advanced diagnostic technology. Knowledge of these inherited metabolic disorders in adults is crucial for the emergency physician to promptly recognize their acute illness and appropriately manage them in the emergency department. Objective: This review provides an overview of various inherited metabolic disorders which present to the emergency department with acute metabolic decompensation. Evaluation and management: Acute illness in these patients is often triggered by a catabolic event such as intercurrent illness, fasting, postpartum, or use of certain medication. It may present in a variety of ways related to severe hyperammonemia, metabolic acidosis, leucine encephalopathy or hypoglycemia. In this review, we describe the clinical presentation, evaluation and immediate management of their critical illness in the emergency department. Conclusion: Acute metabolic decompensation is a life-threatening condition. The emergency physician is usually the first provider to evaluate these patients when they present to the emergency department. Early recognition of their illness and prompt management of these cases improve patient outcomes.
MeSH term(s)	Acidosis/diagnosis ; Acute Disease ; Adult ; Child ; Critical Illness/therapy ; Female ; Humans ; Hyperammonemia ; Hypoglycemia/diagnosis ; Hypoglycemia/therapy
Language	English
Publishing date	2022-03-09
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	605890-5
ISSN	1532-8171 ; 0735-6757
ISSN (online)	1532-8171
ISSN	0735-6757
DOI	10.1016/j.ajem.2022.02.053
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Article: Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

Ramzan, Khushnooda / Al-Numair, Nouf S / Al-Ageel, Sarah / Elbaik, Lina / Sakati, Nadia / Al-Hazzaa, Selwa A. F / Al-Owain, Mohammed / Imtiaz, Faiqa

Genes. 2020 Dec. 09, v. 11, no. 12

2020

Abstract: Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D). The ... ...

Abstract	Mutant alleles of CDH23, a gene that encodes a putative calcium-dependent cell-adhesion glycoprotein with multiple cadherin-like domains, are responsible for both recessive DFNB12 nonsyndromic hearing loss (NSHL) and Usher syndrome 1D (USH1D). The encoded protein cadherin 23 (CDH23) plays a vital role in maintaining normal cochlear and retinal function. The present study’s objective was to elucidate the role of DFNB12 allelic variants of CDH23 in Saudi Arabian patients. Four affected offspring of a consanguineous family with autosomal recessive moderate to profound NSHL without any vestibular or retinal dysfunction were investigated for molecular exploration of genes implicated in hearing impairment. Parallel to this study, we illustrate some possible pitfalls that resulted from unexpected allelic heterogeneity during homozygosity mapping due to identifying a shared homozygous region unrelated to the disease locus. Compound heterozygous missense variants (p.(Asp918Asn); p.(Val1670Asp)) in CDH23 were identified in affected patients by exome sequencing. Both the identified missense variants resulted in a substitution of the conserved residues and evaluation by multiple in silico tools predicted their pathogenicity and variable disruption of CDH23 domains. Three-dimensional structure analysis of human CDH23 confirmed that the residue Asp918 is located at a highly conserved DXD peptide motif and is directly involved in “Ca²⁺” ion contact. In conclusion, our study identifies pathogenic CDH23 variants responsible for isolated moderate to profound NSHL in Saudi patients and further highlights the associated phenotypic variability with a genotypic hierarchy of CDH23 mutations. The current investigation also supports the application of molecular testing in the clinical diagnosis and genetic counseling of hearing loss.
Keywords	cadherins ; cell adhesion ; computer simulation ; glycoproteins ; heterozygosity ; homozygosity ; humans ; loci ; mutants ; pathogenicity ; peptides ; phenotypic variation ; progeny
Language	English
Dates of publication	2020-1209
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	2527218-4
ISSN	2073-4425
ISSN	2073-4425
DOI	10.3390/genes11121474
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Article ; Online: COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.

Altassan, Ruqaiah / Sulaiman, Raashda A / Alfalah, Abdullah / Alwagiat, Waad / Megdad, Eman / Alqasabi, Dana / Handoom, Bedour / Almesned, Munirah / Al-Amri, Hassan / Alhassnan, Zuhair / Alsayed, Moeen-Aldeen / Alzaidan, Hamad / Rahbeeni, Zuhair / Derar, Nada / Al-Owain, Mohammed / Albanyan, Esam

European journal of medical genetics

2022 Volume 65, Issue 11, Page(s) 104602

Abstract: Patients with certain inherited metabolic disorders (IMD) are at high risk for metabolic decompensation with exposure to infections. The COVID-19 pandemic has been particularly challenging for health care providers dealing with IMD patients, in view of ... ...

Abstract	Patients with certain inherited metabolic disorders (IMD) are at high risk for metabolic decompensation with exposure to infections. The COVID-19 pandemic has been particularly challenging for health care providers dealing with IMD patients, in view of its unpredictable consequences in these patients. There is limited data in literature on evaluating the impact and the outcome of COVID-19 infection in these patients. This cross-sectional retrospective study on a large cohort of unvaccinated IMD patients, reviewed the incidence of COVID-19 infection, disease manifestation and outcome during the pandemic between November 2019 and July 2021. In this cohort of 1058 patients, 11.7% (n = 124) were infected with COVID-19. Their median age was 16 years (age range 2-42); 57% (n = 71) were males. Post-exposure positive test was noted in 78% (n = 97) patients, while 19% (n = 24) had symptomatic diagnosis and three patients tested positive during pre-hospital visits screening. Most patients, 68.5% (n = 85) had mild COVID-19 related symptoms such as fever, cough, headache and diarrhea while 13.7% (n = 17) patients had no symptoms. Of twenty-two patients (17.7%) who required hospitalization, 16 were adults with various intoxication and energy metabolism disorders, who developed IMD related complications such as metabolic acidosis, hyperammonemia, acute pancreatitis, hypoglycemia, rhabdomyolysis and thrombosis. Ten patients needed intensive care management. The cohort death rate was 2.4% (3 patients). Overall, the clinical course of COVID-19 infection in these IMD patients was relatively mild except for patients with intoxication and energy metabolism disorders who had high risk of developing acute metabolic decompensation with severe complications.
MeSH term(s)	Acute Disease ; Adolescent ; Adult ; COVID-19/complications ; Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Humans ; Male ; Metabolic Diseases/complications ; Metabolic Diseases/epidemiology ; Pancreatitis/complications ; Pandemics ; Retrospective Studies ; SARS-CoV-2 ; Young Adult
Language	English
Publishing date	2022-08-30
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2022.104602
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Article: Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population.

Aldalaan, Abdullah M / Ramzan, Khushnooda / Saleemi, Sarfraz A / Weheba, Ihab / Alquait, Laila / Abdelsayed, Abeer / Alzubi, Fatima / Zaytoun, Hamdeia / Alharbi, Nadeen / Al-Owain, Mohammed / Imtiaz, Faiqa

Pulmonary circulation

2021 Volume 11, Issue 3, Page(s) 20458940211032057

Abstract: Pulmonary arterial hypertension (PAH), whether idiopathic PAH (IPAH), heritable PAH, or associated with other conditions, is a rare and potentially lethal disease characterized by progressive vascular changes. To date, there is limited data on the ... ...

Abstract	Pulmonary arterial hypertension (PAH), whether idiopathic PAH (IPAH), heritable PAH, or associated with other conditions, is a rare and potentially lethal disease characterized by progressive vascular changes. To date, there is limited data on the genetic basis of PAH in the Arab region, and none from Saudi Arabian patients. This study aims to identify genetic variations and to evaluate the frequency of risk genes associated to PAH, in Saudi Arabian patients. Adult PAH patients, diagnosed with IPAH and pulmonary veno-occlusive disease, of Saudi Arabian origin, were enrolled in this study. Forty-eight patients were subjected to whole-exome sequencing, with screening of 26 genes suggested to be associated with the disease. The median age at diagnosis was 29.5 years of age, with females accounting for 89.5% of our cohort population. Overall, we identified variations in nine genes previously associated with PAH, in 16 patients. Fourteen of these variants have not been described before. Plausible deleterious variants in risk genes were identified in 33.3% (n = 16/48) of our entire cohort and 25% of these cases carried variants in
Language	English
Publishing date	2021-07-28
Publishing country	United States
Document type	Journal Article
ZDB-ID	2638089-4
ISSN	2045-8940 ; 2045-8932
ISSN (online)	2045-8940
ISSN	2045-8932
DOI	10.1177/20458940211032057
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Article ; Online: Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Kaiyrzhanov, Rauan / Ortigoza-Escobar, Juan Darío / Stringer, Brett W / Ganieva, Manizha / Gowda, Vykuntaraju K / Srinivasan, Varunvenkat M / Macaya, Alfons / Laner, Andreas / Onbool, Enas / Al-Shammari, Randa / Al-Owain, Mohammed / Deconinck, Nicolas / Vilain, Catheline / Dontaine, Pauline / Self, Eleanor / Akram, Rabia / Hussain, Ghulam / Baig, Shahid Mahmood / Iqbal, Javed /

Salpietro, Vincenzo / Neshatdoust, Maedeh / Kasiri, Mahboubeh / Yesil, Gozde / Uygur, Turkan / Pysden, Karen / Berry, Ian R / Alves, Cesar Augusto / Giacomotto, Jean / Houlden, Henry / Maroofian, Reza

Movement disorders : official journal of the Movement Disorder Society

2024

Abstract: Background: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ-3).: Objectives! ...

Abstract	Background: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ-3). Objectives: We aim to comprehensively investigate CA8-related disorders (CA8-RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular observations in a cohort of newly identified patients. Methods: We analyzed the phenotype of 27 affected individuals from 14 families with biallelic CA8 variants (including data from 15 newly identified patients from eight families), ages 4 to 35 years. Clinical, genetic, and radiological assessments were performed, and zebrafish models with ca8 knockout were used for functional analysis. Results: Patients exhibited varying degrees of neurodevelopmental disorders (NDD), along with predominantly progressive cerebellar ataxia and pyramidal signs and variable bradykinesia, dystonia, and sensory impairment. Quadrupedal gait was present in only 10 of 27 patients. Progressive selective cerebellar atrophy, predominantly affecting the superior vermis, was a key diagnostic finding in all patients. Seven novel homozygous CA8 variants were identified. Zebrafish models demonstrated impaired early neurodevelopment and motor behavior on ca8 knockout. Conclusion: Our comprehensive analysis of phenotypic features indicates that CA8-RD exhibits a wide range of clinical manifestations, setting it apart from other subtypes within the category of CAMRQ. CA8-RD is characterized by cerebellar atrophy and should be recognized as part of the autosomal-recessive cerebellar ataxias associated with NDD. Notably, the presence of progressive superior vermis atrophy serves as a valuable diagnostic indicator. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Language	English
Publishing date	2024-04-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	607633-6
ISSN	1531-8257 ; 0885-3185
ISSN (online)	1531-8257
ISSN	0885-3185
DOI	10.1002/mds.29754
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