Table 1 Studies related to specific disorders

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

Morphology

[26]

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

[27]

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

[28]

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

 Medicine

 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

Outcome

[32]

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 www.pjms.com.pk