Registered cases


Registered cases

Gender distribution
Gender Count
Male 10
Female 11
# 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
7Adenylosuccinate lyase deficiency(ADSL)1
8Adrenoleukodystrophy8
9Alexander Disease1
10Alfa-Mannosidosis0
11Alkaptonuria0
12Argininemia0
13Argininosuccinic aciduria0
14Aromatic L-Amino acid Decarboxylase Deficiency (AADC)1
15Ataxia with Oculomotor Apraxia Type 1 (AOA1)3
16Biotin-Thiamine- Responsive B6 Disease1
17Biotinidase deficiency18
18Branched Chain Ketoacid dehydrogenase kinas deficiency(BCKDK)2
19Canavan5
20Carbamylphosphate synthetase deficiency0
21Carnitine -acylcarnitine translocase deficiency0
22Carnitine palmitoyl transferase l deficiency0
23Carnitine palmitoyl transferase ll deficiency,late onset0
24Carnitine palmitoyl transferase ll deficiency,lethal neonatal0
25Carnitine transporter deficiency0
26Citrullinemia1
27CoblC- CoblG- CoblF0
28Cockayne syndrome0
29Combined oxidation phosphorylation deficiency 6 (cow check syndrome)1
30Congenital Disorder of glycosilation0
31Creatine Deficiency 1
32Cystinosis0
33Cystinuria0
34D-2-Hydroxyglutaric aciduria4
35Deficiency of the pyruvate dehydrogenase complex0
36Dihydropyrimidine dehydrogenase deficiency1
37ethylmalonic - adipic aciduria0
38Ethylmalonic encephalopathy (EE)1
39Fabry disease0
40Familial hypercholesterolemia0
41Fructose-1,6-biphosphatase deficiency1
42Fucosidosis0
43Galactosemia0
44Galactosialidosis0
45Gaucher disease0
46glucose transporter1 deficiency1
47Glutamine synthetase deficiency0
48Glutaric aciduria type l16
49Glutaric aciduria type ll0
50Glycogen storage diseases0
51Glycogenosis type 1- Von Gierke disease0
52Glycogenosis type 2 /Pompe2
53Glycogenosis type 3 0
54Glycogenosis type 3 / amylo-10
55Glycogenosis type 40
56Glycogenosis type 50
57Glycogenosis type 60
58Glycogenosis type 70
59GM1 gangliosidosis (Juvenile)1
60GM1 gangliosidosis type I (Infantile-Late)3
61GM1 gangliosidosis type II 0
62GM2 activator deficiency2
63GM2 gangliosidosis(Sandhoff disease)1
64GM2 gangliosidosis(Tay-sachs disease)2
65Hartnup disease0
66hepatorenal tyrosinemia0
67HIBCH deficiency1
68holocarboxylase synthetase deficiency0
69Homocystinuria3
70Hunter disease1
71Hurler disease0
72Hyperornithinemia1
73Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)1
74Hyperphenylalaninemia0
75Hypoglycemia occipital-lobe-epilepsy syndrome1
76isovaleric acidemia4
77Keans-Sayre syndrome0
78Krabbe disease3
79L-2 Hydroxyglutaric aciduria4
80l-cell disease/mucolipidosis ll0
81Leigh syndrome5
82Lesch-Nyhan disease and variants0
83Long chain L-3-hydroxyacyl CoA dehydrogenase-(trifunctional protein deficiency)0
84Lysinuric protein intolerance0
85Maple syrup urine disease(MSUD)2
86Maroteaux-Lamy disease/mucopolysaccharidosis Vl0
87Medium chain acyl CoA dehydrogenase deficiency(MCAD)1
88Menkes disease1
89Metachromatic leukodystrophy(MLD)5
90Methylmalonic acidemia22
91methylmalonic aciduria and homocystinuria(Cobalamin C Deficiency)14
92methylmalonic aciduria and homocystinuria(Cobalamin E Deficiency)0
93methylmalonic aciduria and homocystinuria(Cobalamin G Deficiency)1
94Mevalonic aciduria0
95Mitochondrial acetoacetyl-CoA thiolase(3-oxothiolase)deficiency0
96Mitochondrial cytochrome c oxidase (COX) deficiency2
97Mitochondrial dysfunction3
98Mitochondrial encephalomyelopathy,lactic acidosis,and stroke-like episodes(MELAS)0
99Molybdenum cofactor Deficiency1
100Morquio syndrome/mucopolysaccharidosis type lV0
101Mucolipidosis0
102Mucolipidosis lll0
103Multiple acyl CoA dehydrogenase deficiency/ Glutaric aciduria type II/ ethylmalonic-adipic aciduria0
104Multiple carboxylase deficiency /holocarboxylase synthetase deficiency0
105Multiple sulfatase deficiency0
106Myoclonic epilepsy and ragged red fiber(MERRF)disease0
107Neonatal adrenoleukodystrophy0
108Neonatal Ceroid Lipofuscinosis(NCL)4
109Neurodegeneration with Brain Iron Accumulation(NBIA)1
110Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)0
111Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)0
112Neurodegenerative disorder1
113Neuropathy,Russse type1
114Niemann-pick A/B disease1
115Niemann-pick type C disease8
116Nonketotic hyperglycinemia0
117NOTCH3(Cerebral artropathy with subcortical infarcts and leukoencephalopathy1)0
118oculocutaneous tyrosinemia0
119Ornithine transcarbamylase deficiency0
120Orotic aciduria0
121oxothiolase deficiency1
122Pearson syndrome0
123phenylketonuria5
124Propionic acidemia3
125Pyruvate carboxylase deficiency0
126Pyruvate Dehydrogenase deficiency1
127Sandhoff disease8
128Scheie and Hurler-Scheie diseases0
129Short-chain acyl CoA dehydrogenase deficiency0
130Sly disease0
131Succinate Dehydrogenase Deficiency3
132Tay-sachs disease3
133The mitochondrial DNA depletion syndromes0
134Thiamine Deficiency0
135Thiamine Responsive Megaloblastic Anemia(TRMA Anemia)1
136Tyrosinemia2
137Very long chain acyl CoA dehydrogenase deficiency0
138Wolman disease0
139Zellweger6