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Article ; Online: Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing Countries.

Wasim, Muhammad / Khan, Haq Nawaz / Ayesha, Hina / Awan, Fazli Rabbi

Advanced biology

2023 Volume 7, Issue 7, Page(s) e2200318

Abstract: Even in this post genomic era, no national level newborn screening (NBS) programs for inborn errors of metabolism (IEMs) are yet available in several developing countries including Pakistan. Through NBS, various IEMs can be screened using minute ... ...

Abstract	Even in this post genomic era, no national level newborn screening (NBS) programs for inborn errors of metabolism (IEMs) are yet available in several developing countries including Pakistan. Through NBS, various IEMs can be screened using minute quantities of biofluids. Targeted metabolomics and genomic techniques are the main approaches used for NBS. However, lack of technical expertise and such high-end "omics" based analytical facilities, and meager funding for healthcare in developing countries are the major reasons for unavailability of NBS programs. As it is reflected by only a handful reports about IEMs from Pakistan with population of ≈220 million and consanguinity rate of about 70%, which suggests an unmet need for an NBS program owing to reasonably high prevalence of inherited diseases. Around 200 IEMs are potentially treatable if diagnosed at an earlier stage through biochemical marker and genetic screening, so such patients can get benefit from the NBS program. This overview will help to persuade the stakeholders to setup NBS programs in developing countries including Pakistan, due to multitude of benefits for IEMs; timely diagnosis and early treatment can help the patients to live a nearly healthy life, reduced suffering of the family and minimal burden on society or national healthcare system.
MeSH term(s)	Infant, Newborn ; Humans ; Neonatal Screening/methods ; Developing Countries ; Genetic Testing ; Metabolic Diseases ; Consanguinity
Language	English
Publishing date	2023-04-05
Publishing country	Germany
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ISSN	2701-0198
ISSN (online)	2701-0198
DOI	10.1002/adbi.202200318
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Article ; Online: Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five

Khalil, Adila / Khan, Haq Nawaz / Wasim, Muhammad / Ayesha, Hina / Awan, Fazli Rabbi

Nucleosides, nucleotides & nucleic acids

2023 , Page(s) 1–13

Abstract: Background: Classical homocystinuria is an inborn amino acid metabolism disorder resulting from mutations in the Cystathionine-β-Synthase (CBS) gene. These mutations lead to elevated homocysteine and methionine levels and reduced cysteine levels in the ... ...

Abstract	Background: Classical homocystinuria is an inborn amino acid metabolism disorder resulting from mutations in the Cystathionine-β-Synthase (CBS) gene. These mutations lead to elevated homocysteine and methionine levels and reduced cysteine levels in the blood. Typically, diagnosis occurs after patients display symptoms, and various lab methods confirm it. DNA sequencing is the best option for early detection of genetic variants in asymptomatic suspected individuals. Unfortunately, its high cost can hinder its use, especially in low-income countries like Pakistan. Objective: Aim of this study was to devise a robust low-cost diagnostic/screening assay based on Tetra-ARMS-PCR for five prevalent genetic variants found in Pakistani classical homocystinuria patients. Materials and methods: In the current study, T-ARMS-PCR assays were developed for five mutations (c.975G > C, c.770C > T, c.752T > C, c.1039 + 1G > T, c.451 + 1GG > TA), which were characterized previously in classical homocystinuria patients. These low-cost T-ARMS-PCR assays were then used to screen the affected individuals and their family members to identify their genotypes for pathogenic variations in the asymptomatic patients and carriers in their respective families. Results: The outcomes were entirely consistent with those obtained from Sanger DNA sequencing, confirming the sensitivity, specificity, and reliability of the T-ARMS-PCR assay for detecting Conclusion: T-ARMS-PCR has wide applications for low-income countries for the screening and early diagnosis of asymptomatic patients and carriers in the homocystinuria affected families as well as other inherited diseases.
Language	English
Publishing date	2023-11-16
Publishing country	United States
Document type	Journal Article
ZDB-ID	2008956-9
ISSN	1532-2335 ; 1525-7770
ISSN (online)	1532-2335
ISSN	1525-7770
DOI	10.1080/15257770.2023.2280013
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Article ; Online: Biochemical screening of intellectually disabled and healthy children in Punjab, Pakistan: differences in liver function test and lipid profiles.

Wasim, Muhammad / Khan, Haq Nawaz / Ayesha, Hina / Awan, Fazli Rabbi

International journal of developmental disabilities

2019 Volume 66, Issue 3, Page(s) 190–195

Abstract: Objectives: ...

Abstract	Objectives:
Language	English
Publishing date	2019-01-15
Publishing country	England
Document type	Journal Article
ZDB-ID	2625980-1
ISSN	2047-3877 ; 2047-3869
ISSN (online)	2047-3877
ISSN	2047-3869
DOI	10.1080/20473869.2018.1533084
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Article ; Online: Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.

Khan, Haq Nawaz / Wasim, Muhammad / Ayesha, Hina / Awan, Fazli Rabbi

Molecular biology reports

2018 Volume 45, Issue 6, Page(s) 2585–2591

Abstract: Wilson disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene causing hepatic and neurological damage due to copper accumulation. Early diagnosis and treatment could lead to improved survival of patients. Patients are best ... ...

Abstract	Wilson disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene causing hepatic and neurological damage due to copper accumulation. Early diagnosis and treatment could lead to improved survival of patients. Patients are best treated at pre-symptomatic stages but early diagnosis of Wilson disease is challenging owing to complex diagnosis. Evidence based genetic counseling requires characterization of underlying mutations in Wilson disease families. The aim was to characterize the causative mutation(s) in a Pakistani Wilson disease family by custom developed ARMS-PCR assay. A proband (19 years old boy) having Wilson disease with evidence of K-F ring, severe neurological and psychiatric manifestations and clinical findings supported by biochemical abnormalities was followed. Following screening for 12 putative mutations in ATP7B, we identified a homozygous mutation (p.Cys271*, c.813C > A) in proband by T-ARMS-PCR assay and validated by Sanger DNA sequencing. Furthermore, on screening of his family members, a younger sister (aged 9 years) was found to have the same homozygous mutation even though she was clinically asymptomatic except for a light K-F ring. Parents were heterozygous for this mutation and an elder brother was homozygous normal. Molecular diagnosis by PCR based assays (M-ARMS-PCR and T-ARMS-PCR) is cost effective, reliable, and efficient for preliminary screening of mutations in the ATP7B gene in developing countries like Pakistan, which can be successfully applied to Wilson disease families for genetic testing and follow-up evidence based genetic counseling.
MeSH term(s)	Adolescent ; Adult ; Child ; Copper-transporting ATPases/genetics ; Copper-transporting ATPases/metabolism ; Family ; Female ; Genetic Testing/methods ; Genotype ; Hepatolenticular Degeneration/diagnosis ; Hepatolenticular Degeneration/genetics ; Humans ; Male ; Mutation ; Pakistan ; Pedigree ; Polymerase Chain Reaction/methods ; Sequence Analysis, DNA ; Young Adult
Chemical Substances	Copper-transporting ATPases (EC 3.6.3.54) ; ATP7B protein, human (EC 7.2.2.8)
Language	English
Publishing date	2018-11-13
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	186544-4
ISSN	1573-4978 ; 0301-4851
ISSN (online)	1573-4978
ISSN	0301-4851
DOI	10.1007/s11033-018-4426-y
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Article: An Overview of Traditional and Novel Therapeutic Options for the Management of Phenylketonuria.

Wasim, Muhammad / Awan, Fazli Rabbi / Khan, Haq Nawaz / Ayesha, Hina

Critical reviews in eukaryotic gene expression

2018 Volume 28, Issue 2, Page(s) 177–185

Abstract: Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase enzyme that catalyzes the conversion of L-phenylalanine to L-tyrosine using tetrahydrobiopterin (BH4) as a cofactor. Among aminoacidopathies, ... ...

Abstract	Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase enzyme that catalyzes the conversion of L-phenylalanine to L-tyrosine using tetrahydrobiopterin (BH4) as a cofactor. Among aminoacidopathies, PKU is one of the most prevalent disorders in different populations. It may be caused by deficiency of BH4 or mutations in PAH. About 98% of PKU patients have mutations in the PAH, while the remaining have BH4 deficiency. If PKU is diagnosed earlier in life using advance analytical techniques (e.g., high performance liquid chromatography, mass spectrometry, and polymerase chain reaction), then it is potentially treatable by special diets (L-phenylalanine-free medical formula). However, some complications such as vitamin B12 deficiency, cardiovascular problems, and neurodevelopmental problems have been reported in PKU patients when they ate special diets for a long period. Hence, special diet alone is not a good option for proper treatment. Next generation therapies require structure-function based development. For therapies which target PAH gene (e.g., gene therapy, RNAi, gene editing), a lot of research has yet to be done. Treatment with BH4 therapy is safe and effective but only in BH4-responsive PKU patients. Therefore, research efforts should be focused on the development of more targeted pharmacological and genetic therapies especially PAH gene therapy, which can reduce the burden or deleterious effects of this disease in affected patients.
MeSH term(s)	Biopterins/analogs & derivatives ; Biopterins/deficiency ; Biopterins/genetics ; Biopterins/therapeutic use ; Disease Management ; Genetic Therapy/trends ; Humans ; Mutation ; Phenylalanine/genetics ; Phenylalanine/metabolism ; Phenylalanine Hydroxylase/genetics ; Phenylketonurias/drug therapy ; Phenylketonurias/genetics ; Phenylketonurias/pathology
Chemical Substances	Biopterins ; Phenylalanine (47E5O17Y3R) ; Phenylalanine Hydroxylase (EC 1.14.16.1) ; sapropterin (EGX657432I)
Language	English
Publishing date	2018-07-28
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1071345-1
ISSN	1045-4403
ISSN	1045-4403
DOI	10.1615/CritRevEukaryotGeneExpr.2018023073
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Article ; Online: High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.

Saeed, Sadia / Khanam, Roohia / Janjua, Qasim M / Manzoor, Jaida / Ning, Lijiao / Hanook, Sharoon / Canouil, Mickaël / Ali, Muhammad / Ayesha, Hina / Khan, Waqas I / Farooqi, I Sadaf / Yeo, Giles S H / O'Rahilly, Stephen / Bonnefond, Amélie / Butt, Taeed A / Arslan, Muhammad / Froguel, Philippe

Cell reports. Medicine

2023 Volume 4, Issue 9, Page(s) 101187

Abstract: The long-term clinical outcomes of severe obesity due to leptin signaling deficiency are unknown. We carry out a retrospective cross-sectional investigation of a large cohort of children with leptin (LEP), LEP receptor (LEPR), or melanocortin 4 receptor ( ...

Abstract	The long-term clinical outcomes of severe obesity due to leptin signaling deficiency are unknown. We carry out a retrospective cross-sectional investigation of a large cohort of children with leptin (LEP), LEP receptor (LEPR), or melanocortin 4 receptor (MC4R) deficiency (n = 145) to evaluate the progression of the disease. The affected individuals undergo physical, clinical, and metabolic evaluations. We report a very high mortality in children with LEP (26%) or LEPR deficiency (9%), mainly due to severe pulmonary and gastrointestinal infections. In addition, 40% of surviving children with LEP or LEPR deficiency experience life-threatening episodes of lung or gastrointestinal infections. Although precision drugs are currently available for LEP and LEPR deficiencies, as yet, they are not accessible in Pakistan. An appreciation of the severe impact of LEP or LEPR deficiency on morbidity and early mortality, educational attainment, and the attendant stigmatization should spur efforts to deliver the available life-saving drugs to these children as a matter of urgency.
MeSH term(s)	Child ; Humans ; Cross-Sectional Studies ; Leptin ; Morbidity ; Obesity, Morbid ; Retrospective Studies
Chemical Substances	LEP protein, human ; Leptin ; LEPR protein, human
Language	English
Publishing date	2023-09-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2666-3791
ISSN (online)	2666-3791
DOI	10.1016/j.xcrm.2023.101187
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Article: Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family

Khan, Haq Nawaz / Awan, Fazli Rabbi / Ayesha, Hina / Wasim, Muhammad

Molecular biology reports. 2018 Dec., v. 45, no. 6

2018

Abstract	Wilson disease is a rare autosomal recessive disorder caused by mutations in the ATP7B gene causing hepatic and neurological damage due to copper accumulation. Early diagnosis and treatment could lead to improved survival of patients. Patients are best treated at pre-symptomatic stages but early diagnosis of Wilson disease is challenging owing to complex diagnosis. Evidence based genetic counseling requires characterization of underlying mutations in Wilson disease families. The aim was to characterize the causative mutation(s) in a Pakistani Wilson disease family by custom developed ARMS-PCR assay. A proband (19 years old boy) having Wilson disease with evidence of K–F ring, severe neurological and psychiatric manifestations and clinical findings supported by biochemical abnormalities was followed. Following screening for 12 putative mutations in ATP7B, we identified a homozygous mutation (p.Cys271*, c.813C > A) in proband by T-ARMS–PCR assay and validated by Sanger DNA sequencing. Furthermore, on screening of his family members, a younger sister (aged 9 years) was found to have the same homozygous mutation even though she was clinically asymptomatic except for a light K–F ring. Parents were heterozygous for this mutation and an elder brother was homozygous normal. Molecular diagnosis by PCR based assays (M-ARMS-PCR and T-ARMS-PCR) is cost effective, reliable, and efficient for preliminary screening of mutations in the ATP7B gene in developing countries like Pakistan, which can be successfully applied to Wilson disease families for genetic testing and follow-up evidence based genetic counseling.
Keywords	boys ; copper ; cost effectiveness ; counseling ; developing countries ; early diagnosis ; genes ; genetic testing ; hepatolenticular degeneration ; heterozygosity ; homozygosity ; mutation ; parents ; patients ; polymerase chain reaction ; screening ; Pakistan
Language	English
Dates of publication	2018-12
Size	p. 2585-2591.
Publishing place	Springer Netherlands
Document type	Article
ZDB-ID	186544-4
ISSN	1573-4978 ; 0301-4851
ISSN (online)	1573-4978
ISSN	0301-4851
DOI	10.1007/s11033-018-4426-y
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Article ; Online: High levels of blood glutamic acid and ornithine in children with intellectual disability.

Wasim, Muhammad / Khan, Haq Nawaz / Ayesha, Hina / Tawab, Abdul / Habib, Fazal E / Asi, Muhammad Rafique / Iqbal, Mazhar / Awan, Fazli Rabbi

International journal of developmental disabilities

2020 Volume 68, Issue 5, Page(s) 609–614

Abstract: Objectives: ...

Abstract	Objectives:
Language	English
Publishing date	2020-12-21
Publishing country	England
Document type	Journal Article
ZDB-ID	2625980-1
ISSN	2047-3877 ; 2047-3869
ISSN (online)	2047-3877
ISSN	2047-3869
DOI	10.1080/20473869.2020.1858520
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Article ; Online: Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.

Wasim, Muhammad / Awan, Fazli Rabbi / Khan, Haq Nawaz / Tawab, Abdul / Iqbal, Mazhar / Ayesha, Hina

Biochemical genetics

2018 Volume 56, Issue 1-2, Page(s) 7–21

Abstract: Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or ... ...

Abstract	Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To date, more than 500 IEMs have been reported with most of them being untreatable. However, fortunately 91 such disorders are potentially treatable, if diagnosed at an earlier stage of life. IEMs have been classified into different categories and one class of IEMs, characterized by the physiological disturbances of amino acids is called as aminoacidopathies. Out of 91 treatable IEM, thirteen disorders are amino acid related. Aminoacidopathies can be detected by chromatography and mass spectrometry based analytical techniques (e.g., HPLC, GC-MS, LC-MS/MS) for amino acid level changes, and through genetic assays (e.g., PCR, TaqMan Genotyping, DNA sequencing) at the mutation level in the corresponding genes. Hence, this review is focused to describe thirteen common aminoacidopathies namely: Phenylketonuria (PKU), Maple Syrup Urine Disease (MSUD), Homocystinuria/Methylene Tetrahydrofolate Reductase (MTHFR) deficiency, Tyrosinemia type II, Citrullinemia type I and type II, Argininosuccinic aciduria, Carbamoyl Phosphate Synthetase I (CPS) deficiency, Argininemia (arginase deficiency), Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome, N-Acetylglutamate Synthase (NAGS) deficiency, Ornithine Transcarbamylase (OTC) deficiency, and Pyruvate Dehydrogenase (PDH) complex deficiency. Furthermore, the etiology, prevalence and commonly used analytical techniques for screening of aminoacidopathies are briefly described. This information would be helpful to researchers and clinicians especially from developing countries to initiate newborn screening programs for aminoacidopathies.
MeSH term(s)	Amino Acid Metabolism, Inborn Errors/diagnosis ; Amino Acid Metabolism, Inborn Errors/epidemiology ; Amino Acid Metabolism, Inborn Errors/etiology ; Amino Acid Metabolism, Inborn Errors/therapy ; Amino Acids/blood ; Amino Acids/genetics ; Genotyping Techniques ; Humans ; Mass Screening ; Mass Spectrometry ; Prevalence
Chemical Substances	Amino Acids
Language	English
Publishing date	2018-04
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2168-4
ISSN	1573-4927 ; 0006-2928
ISSN (online)	1573-4927
ISSN	0006-2928
DOI	10.1007/s10528-017-9825-6
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Article: Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan.

Wasim, Muhammad / Khan, Haq Nawaz / Ayesha, Hina / Goorden, Susanna M I / Vaz, Frederic M / van Karnebeek, Clara D M / Awan, Fazli Rabbi

Frontiers in neurology

2019 Volume 10, Page(s) 762

Abstract: Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more than 1,000 different types. Around 200 of IEMs are potentially treatable through diet, pharmacological and other therapies, if diagnosed earlier in life. IEMs can ... ...

Abstract	Inborn errors of metabolism (IEMs) are rare group of genetic disorders comprising of more than 1,000 different types. Around 200 of IEMs are potentially treatable through diet, pharmacological and other therapies, if diagnosed earlier in life. IEMs can be diagnosed early through newborn screening (NBS) programs, which are in place in most of the developed countries. However, establishing a NBS in a developing country is a challenging task due to scarcity of disease related data, large population size, poor economy, and burden of other common disorders. Since, not enough data is available for the prevalence of IEMs in Pakistan; therefore, in this study, we set out to find the prevalence of various treatable IEMs in a cohort of intellectually disabled patients suspected for IEMs, which will help us to initiate a NBS program for the most frequent IEMs in Pakistan. Therefore, a total of 429 intellectually disabled (IQ <70) patient samples were collected from Pakistan. A subset of 113 patient samples was selected based on the clinical information for the detailed biochemical screening. Advance analytical techniques like, Amino Acid Analyzer, GC-MS, UHPLC-MS, and MS/MS were used to screen for different treatable IEMs like aminoacidopathies, fatty acid β-oxidation disorders and mucopolysaccharidoses (MPS) etc. A total of 14 patients were diagnosed with an IEM i.e., 9 with homocystinuria, 2 with MPS, 2 with Guanidinoacetate methyltransferase (GAMT) deficiency and 1 with sitosterolemia. These IEMs are found frequent in the collected patient samples from Pakistan. Thus, present study can help to take an initiative step to start a NBS program in Pakistan, especially for the homocystinuria having highest incidence among aminoacidopathies in the studied patients, and which is amenable to treatment. This endeavor will pave the way for a healthier life of affected patients and will lessen the burden on their families and society.
Language	English
Publishing date	2019-07-17
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564214-5
ISSN	1664-2295
ISSN	1664-2295
DOI	10.3389/fneur.2019.00762
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