Registered cases


Registered cases

Gender distribution
Gender Count
Male 17
Female 13
# 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 Disease0
9Alfa-Mannosidosis0
10Alkaptonuria0
11Argininemia0
12Argininosuccinic aciduria0
13Aromatic L-Amino acid Decarboxylase Deficiency (AADC)1
14Ataxia with Oculomotor Apraxia Type 1 (AOA1)3
15Biotinidase deficiency18
16Branched Chain Ketoacid dehydrogenase kinas deficiency(BCKDK)2
17Canavan5
18Carbamylphosphate synthetase deficiency0
19Carnitine -acylcarnitine translocase deficiency0
20Carnitine palmitoyl transferase l deficiency0
21Carnitine palmitoyl transferase ll deficiency,late onset0
22Carnitine palmitoyl transferase ll deficiency,lethal neonatal0
23Carnitine transporter deficiency0
24Citrullinemia1
25CoblC- CoblG- CoblF0
26Cockayne syndrome0
27Combined oxidation phosphorylation deficiency 6 (cow check syndrome)1
28Congenital Disorder of glycosilation0
29Creatine Deficiency 0
30Cystinosis0
31Cystinuria0
32D-2-Hydroxyglutaric aciduria4
33Deficiency of the pyruvate dehydrogenase complex0
34Dihydropyrimidine dehydrogenase deficiency1
35ethylmalonic - adipic aciduria0
36Ethylmalonic encephalopathy (EE)1
37Fabry disease0
38Familial hypercholesterolemia0
39Fructose-1,6-biphosphatase deficiency1
40Fucosidosis0
41Galactosemia0
42Galactosialidosis0
43Gaucher disease0
44glucose transporter1 deficiency0
45Glutamine synthetase deficiency0
46Glutaric aciduria type l16
47Glutaric aciduria type ll0
48Glycogen storage diseases0
49Glycogenosis type 1- Von Gierke disease0
50Glycogenosis type 2 /Pompe2
51Glycogenosis type 3 0
52Glycogenosis type 3 / amylo-10
53Glycogenosis type 40
54Glycogenosis type 50
55Glycogenosis type 60
56Glycogenosis type 70
57GM1 gangliosidosis (Juvenile)1
58GM1 gangliosidosis type I (Infantile)1
59GM1 gangliosidosis type II 0
60GM2 activator deficiency2
61GM2 gangliosidosis(Sandhoff disease)0
62GM2 gangliosidosis(Tay-sachs disease)1
63Hartnup disease0
64hepatorenal tyrosinemia0
65HIBCH deficiency1
66holocarboxylase synthetase deficiency0
67Homocystinuria1
68Hunter disease1
69Hurler disease0
70Hyperornithinemia0
71Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)1
72Hyperphenylalaninemia0
73isovaleric acidemia4
74Keans-Sayre syndrome0
75Krabbe disease3
76L-2 Hydroxyglutaric aciduria4
77l-cell disease/mucolipidosis ll0
78Leigh syndrome5
79Lesch-Nyhan disease and variants0
80Long chain L-3-hydroxyacyl CoA dehydrogenase-(trifunctional protein deficiency)0
81Lysinuric protein intolerance0
82Maple syrup urine disease(MSUD)2
83Maroteaux-Lamy disease/mucopolysaccharidosis Vl0
84Medium chain acyl CoA dehydrogenase deficiency(MCAD)1
85Menkes disease1
86Metachromatic leukodystrophy(MLD)4
87Methylmalonic acidemia22
88methylmalonic aciduria and homocystinuria13
89Mevalonic aciduria0
90Mitochondrial acetoacetyl-CoA thiolase(3-oxothiolase)deficiency0
91Mitochondrial cytochrome c oxidase (COX) deficiency2
92Mitochondrial dysfunction3
93Mitochondrial encephalomyelopathy,lactic acidosis,and stroke-like episodes(MELAS)0
94Molybdenum cofactor Deficiency1
95Morquio syndrome/mucopolysaccharidosis type lV0
96Mucolipidosis0
97Mucolipidosis lll0
98Multiple acyl CoA dehydrogenase deficiency/ Glutaric aciduria type II/ ethylmalonic-adipic aciduria0
99Multiple carboxylase deficiency /holocarboxylase synthetase deficiency0
100Multiple sulfatase deficiency0
101Myoclonic epilepsy and ragged red fiber(MERRF)disease0
102Neonatal adrenoleukodystrophy0
103Neonatal Ceroid Lipofuscinosis(NCL)4
104Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)0
105Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)0
106Neurodegenerative disorder1
107Neuropathy,Russse type1
108Niemann-pick A/B disease1
109Niemann-pick type C disease8
110Nonketotic hyperglycinemia0
111NOTCH3(Cerebral artropathy with subcortical infarcts and leukoencephalopathy1)0
112oculocutaneous tyrosinemia0
113Ornithine transcarbamylase deficiency0
114Orotic aciduria0
115oxothiolase deficiency1
116Pearson syndrome0
117phenylketonuria5
118Propionic acidemia3
119Pyruvate carboxylase deficiency0
120Pyruvate Dehydrogenase deficiency1
121Sandhoff disease6
122Scheie and Hurler-Scheie diseases0
123Short-chain acyl CoA dehydrogenase deficiency0
124Sly disease0
125Succinate Dehydrogenase Deficiency3
126Tay-sachs disease3
127The mitochondrial DNA depletion syndromes0
128Thiamine Deficiency0
129Thiamine Responsive Megaloblastic Anemia(TRMA Anemia)1
130Tyrosinemia2
131Very long chain acyl CoA dehydrogenase deficiency0
132Wolman disease0
133Zellweger6