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Table 1 Studies related to specific disorders

From: Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan

Diagnosis Population Sample size Age range of presentation Consanguinity Genetic MEthods for diagnosis Biochemical methods for diagnosis References
Congenital adrenal hyperplasia Karachi 26 patients Not mentioned Not mentioned Genetic ARMS-PCR (amplified refractory mutation system) Not mentioned [18]
Congenital adrenal hyperplasia Karachi 63 1 day to 12 year 33 cases (52.3%) Not mentioned Enzyme assays mentioned [19]
Congenital adrenal hyperplasia Karachi Case series 3 cases 47,20,24 year positive Genetic analysis through PCR Progesterone, testosterone levels done [20]
Congenital adrenal hyperplasia AFIP Rawalpindi Case report 5 years positive Not mentioned Progesterone, testosterone levels done [21]
Congenital adrenal hyperplasia AKU Karachi 29 patients Not mentioned positive 65% Mutation analysis done Progesterone, testosterone levels done [22]
Lysosomal storage disorder: Gaucher's Disease Aga Khan University, Karachi, Pakistan, with different forms 2 patients Not mentioned Not mentioned Not Done BM, Hematological parameters, acid phosphatase level, visceral volumetric CT and MRI, xray, DEXA [23]
Lysosomal storage disorder: Gaucher's Disease AKU Karachi Case report Not mentioned Not mentioned Not Done Acid phosphatase level done [24]
Lysosomal storage disease Peshawar 22 patients
Gaucher disease 15 (68%)
Niemann- Pick Disease in 7 (30.8%)
Not mentioned Not mentioned Not mentioned A total of 413 bone marrows were aspirated in 2 months [25]
Gaucher’s Disease National Institute of Blood Disease and Bone marrow Transplantation 5 patients out of total
19 patients (10 parents 4 control)
Not mentioned Not mentioned Identification of GBA Gene Mutations Β-glucosidase enzyme
Levels rather than
On bone marrow
Lysosomal storage disorder: Gaucher’s Disease Type 1 Civil Hospital, Karachi Case report 18 months Not Done Not Done Low leukocyte glucocerebrosidase activity, raised plasma chitotriosidase and the presence
Of Gaucher cells on bone marrow biopsy. The disease was treated with Intravenous replacement of
The enzyme Imiglucerase (cerezyme) and the patient was followed
Niemann-pick disease Children’s Hospital Lahore Total seven sporadic patients Not mentioned Unrelated patients from consanguineous families We have mapped five different mutations in SMPD1 gene of enrolled patients with a novel
Homozygous missense variant (c.1718G > C) (p.Trp573Ser) in one patient. A missense mutation (c.1267C > T)
(p.His423Tyr) has been identified in three unrelated patients. A nonsense mutation (c.1327C > T)
(p.Arg443Term) and one missense mutation (c.1493G > A) (p.Arg498His) mapped in one patient each. A
Compound heterozygous mutation has been mapped in one patient (c.740G > A) (p.Gly247Asp); (c.1493G > A)
(p.Arg498His). Pathogenic effect of novel variant has been predicted through in-silico analysis and has not
Been reported in general overall population in the globe
Reduced acid sphingomyelinase activity in fibroblasts,
Lymphoblasts or in peripheral white blood cells
MPS KPK, Punjab, Baluchistan, FATA 8 families Not mentioned Not mentioned DNA extraction
Sanger sequencing
Insilico (QAU)
Linkage analysis followed by sequence analysis of the gene detected four novel (p.Phe216Ser, p.Met38Arg, p.Ala291Ser, p.Glu121Argfs*37) and two reported (p.Pro420Arg, p.Arg386Cys) mutations in the eight families. In silico structural and functional analysis predicted that these mutations disrupt the function of GALNS protein through fluctuating its three-dimensional structure, stability, and binding affinity and produce severe phenotypes
Not mentioned [29]
MPS Pakistan Thirteen MPS1-affected children from 12 unrelated cohorts were enrolled Not mentioned Not mentioned Results Six IDUA gene mutations were mapped co-segregating with the recessive pattern of inheritance including a novel variant. A novel missense variant c.908 T > C (p.L303P) was mapped in two affected siblings in a cohort in the homozygous form. The variant c.1469 T > C (p.L490P) was mapped in five unrelated patients and c.784delc (p.H262Tfs*55) was mapped in three unrelated patients, while mutations c.1598C > G (p.P533R), c.314G > A (p.R105Q) and c.1277ins9 [p. (A394-L395-L396)] were mapped in a single patient each Not mentioned Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1
         Muhammad Yasir Zahoor, Huma Arshad Cheema, + 3 authors Munir Ahmad Bhinder
         Published in Journal of pediatric…2019
         Journal of Pediatric Endocrinology and Metabolism
Type 1 Galactosemia (Classical and Duarte) Department of Pediatric Gastroenterology and Hepatology, Children's Hospital and Institute of Child Health, Lahore 8 Families 1.6–15 months 6 Families Detection of common mutations in the GALT gene through ARMS Done localy Not mentioned [13]
Galactosemia Department Of Pediatric Gastroenterology Hepatology at The Children’s Hospital and Institute of Child Health. Lahore 22 patients Mean age 112 days with a range from 8—510 days Not mentioned Not Done Benedict’s test (urine), Dipstick (Glysinuria) Enzyme analysis GAL-1 PUT [30]
GSD Type 1a Department of Pediatric, division of Gastroenterology & Hepatology of the Children’s hospital, Lahore 40 pts with GSD out of 360 with liver disoder 25.6 months Not mentioned Not Done Clinical and Biochemical test based diagnosis [31]
Methylmalonic aciduria: January 2013 to April 2016 at the Aga Khan University Hospital, Karachi 1,778 patients 50(2.81%) were detected with methylmalonic acidurias. Not mentioned Not mentioned Not Done Methyl melaonic aciduria is a biochemical finding present in patients with MMA, Cb1-RD, SUCL deficiency and serum B12 deficiency thus all patients with mmauria should be further
Investigated with PAA, thcy, B12 and FA levels for the correct diagnosis. A correct diagnosis allows clinicians to prescribe appropriate treatment, leading to better
Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Pakistani cohorts Children hospital lahore 4 cohorts Hepatorenal tyrosinemia type 1 (HT1) and 8 cohorts fructose 1,6-bisphosphatase deficiency (FBPD Not mentioned Not mentioned Mapping of two recessive mutations in FAH gene for HT1; c.1062 + 5G > A(IVS12 + 5G > A) in three families and c.974C > T(pt325m) in one. We identified three mutations in FBP1 gene; c.841G > A(p.E281K) in five FBPD families, c.472C > T(p.R158W) in two families and c.778G > A(p.G260R) in one Not mentioned Genetic Analysis of Tyrosinemia Type 1 and Fructose-1, 6 Bisphosphatase Deficiency Affected Pakistani Cohorts. Muhammad Yasir Zahoor, Huma Ashraf Cheema, Sadaqat Ijaz, Zafar Fayyaz less
Published in Fetal and pediatric pathology 2019 Medicine
Alkaptnuria Mayo hospital lahore 2 Cases Non-consanguinity Not Done Urine analysis HGA Biochemical assays Alkaptonuria – case report and REview of literature
Muhammad Nafees1, Muhammad Muazzam. Pak J Med Sci 2007 Vol. 23 No. 4