Registered cases


Registered cases

Gender distribution
Gender Count
Male 10
Female 12
# Diagnose names Count
1 glutaric aciduria type ll 1
23-Hydroxy-3-methylglutarylCoA lyase deficiency0
33-HydroxyacylCoA dehydrogenase(Short-chain 3- HydroxyacylCoA dehydrogenase) Deficiency1
43-Methylglutaconic aciduria (MGA)1
53methylcrotonyl glycinuria1
64Hydroxybutyric aciduria0
7Adrenoleukodystrophy8
8Alexander Disease1
9Alfa-Mannosidosis0
10Alkaptonuria0
11Argininemia0
12Argininosuccinic aciduria0
13Aromatic L-Amino acid Decarboxylase Deficiency (AADC)1
14Ataxia with Oculomotor Apraxia Type 1 (AOA1)3
15Biotin-Thiamine- Responsive B6 Disease1
16Biotinidase deficiency18
17Branched Chain Ketoacid dehydrogenase kinas deficiency(BCKDK)2
18Canavan5
19Carbamylphosphate synthetase deficiency0
20Carnitine -acylcarnitine translocase deficiency0
21Carnitine palmitoyl transferase l deficiency0
22Carnitine palmitoyl transferase ll deficiency,late onset0
23Carnitine palmitoyl transferase ll deficiency,lethal neonatal0
24Carnitine transporter deficiency0
25Citrullinemia1
26CoblC- CoblG- CoblF0
27Cockayne syndrome0
28Combined oxidation phosphorylation deficiency 6 (cow check syndrome)1
29Congenital Disorder of glycosilation0
30Creatine Deficiency 0
31Cystinosis0
32Cystinuria0
33D-2-Hydroxyglutaric aciduria4
34Deficiency of the pyruvate dehydrogenase complex0
35Dihydropyrimidine dehydrogenase deficiency1
36ethylmalonic - adipic aciduria0
37Ethylmalonic encephalopathy (EE)1
38Fabry disease0
39Familial hypercholesterolemia0
40Fructose-1,6-biphosphatase deficiency1
41Fucosidosis0
42Galactosemia0
43Galactosialidosis0
44Gaucher disease0
45glucose transporter1 deficiency1
46Glutamine synthetase deficiency0
47Glutaric aciduria type l16
48Glutaric aciduria type ll0
49Glycogen storage diseases0
50Glycogenosis type 1- Von Gierke disease0
51Glycogenosis type 2 /Pompe2
52Glycogenosis type 3 0
53Glycogenosis type 3 / amylo-10
54Glycogenosis type 40
55Glycogenosis type 50
56Glycogenosis type 60
57Glycogenosis type 70
58GM1 gangliosidosis (Juvenile)1
59GM1 gangliosidosis type I (Infantile-Late)3
60GM1 gangliosidosis type II 0
61GM2 activator deficiency2
62GM2 gangliosidosis(Sandhoff disease)1
63GM2 gangliosidosis(Tay-sachs disease)2
64Hartnup disease0
65hepatorenal tyrosinemia0
66HIBCH deficiency1
67holocarboxylase synthetase deficiency0
68Homocystinuria3
69Hunter disease1
70Hurler disease0
71Hyperornithinemia1
72Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)1
73Hyperphenylalaninemia0
74isovaleric acidemia4
75Keans-Sayre syndrome0
76Krabbe disease3
77L-2 Hydroxyglutaric aciduria4
78l-cell disease/mucolipidosis ll0
79Leigh syndrome5
80Lesch-Nyhan disease and variants0
81Long chain L-3-hydroxyacyl CoA dehydrogenase-(trifunctional protein deficiency)0
82Lysinuric protein intolerance0
83Maple syrup urine disease(MSUD)2
84Maroteaux-Lamy disease/mucopolysaccharidosis Vl0
85Medium chain acyl CoA dehydrogenase deficiency(MCAD)1
86Menkes disease1
87Metachromatic leukodystrophy(MLD)5
88Methylmalonic acidemia22
89methylmalonic aciduria and homocystinuria13
90Mevalonic aciduria0
91Mitochondrial acetoacetyl-CoA thiolase(3-oxothiolase)deficiency0
92Mitochondrial cytochrome c oxidase (COX) deficiency2
93Mitochondrial dysfunction3
94Mitochondrial encephalomyelopathy,lactic acidosis,and stroke-like episodes(MELAS)0
95Molybdenum cofactor Deficiency1
96Morquio syndrome/mucopolysaccharidosis type lV0
97Mucolipidosis0
98Mucolipidosis lll0
99Multiple acyl CoA dehydrogenase deficiency/ Glutaric aciduria type II/ ethylmalonic-adipic aciduria0
100Multiple carboxylase deficiency /holocarboxylase synthetase deficiency0
101Multiple sulfatase deficiency0
102Myoclonic epilepsy and ragged red fiber(MERRF)disease0
103Neonatal adrenoleukodystrophy0
104Neonatal Ceroid Lipofuscinosis(NCL)4
105Neurodegeneration with Brain Iron Accumulation(NBIA)1
106Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)0
107Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)0
108Neurodegenerative disorder1
109Neuropathy,Russse type1
110Niemann-pick A/B disease1
111Niemann-pick type C disease8
112Nonketotic hyperglycinemia0
113NOTCH3(Cerebral artropathy with subcortical infarcts and leukoencephalopathy1)0
114oculocutaneous tyrosinemia0
115Ornithine transcarbamylase deficiency0
116Orotic aciduria0
117oxothiolase deficiency1
118Pearson syndrome0
119phenylketonuria5
120Propionic acidemia3
121Pyruvate carboxylase deficiency0
122Pyruvate Dehydrogenase deficiency1
123Sandhoff disease8
124Scheie and Hurler-Scheie diseases0
125Short-chain acyl CoA dehydrogenase deficiency0
126Sly disease0
127Succinate Dehydrogenase Deficiency3
128Tay-sachs disease3
129The mitochondrial DNA depletion syndromes0
130Thiamine Deficiency0
131Thiamine Responsive Megaloblastic Anemia(TRMA Anemia)1
132Tyrosinemia2
133Very long chain acyl CoA dehydrogenase deficiency0
134Wolman disease0
135Zellweger6