Registered cases


Registered cases

Gender distribution
Gender Count
Male 1
Female 1
# Diagnose names Count
1 glutaric aciduria type ll 2
23-Hydroxy-3-methylglutarylCoA lyase deficiency0
33-HydroxyacylCoA dehydrogenase(Short-chain 3- HydroxyacylCoA dehydrogenase) Deficiency2
43-Methylglutaconic aciduria (MGA)2
53methylcrotonyl glycinuria1
64Hydroxybutyric aciduria0
7?- Pyrroline-5-Carboxylase Reductase deficiency1
8Adenylosuccinate lyase deficiency(ADSL)1
9Adrenoleukodystrophy17
10Alexander Disease1
11Alfa-Mannosidosis0
12Alkaptonuria0
13Argininemia0
14Argininosuccinic aciduria0
15Aromatic L-Amino acid Decarboxylase Deficiency (AADC)1
16Ataxia with Oculomotor Apraxia Type 1 (AOA1)5
17Biotin-Thiamine- Responsive B6 Disease2
18Biotinidase deficiency21
19Branched Chain Ketoacid dehydrogenase kinas deficiency(BCKDK)3
20Canavan8
21Carbamylphosphate synthetase deficiency0
22Carnitine -acylcarnitine translocase deficiency0
23Carnitine palmitoyl transferase l deficiency0
24Carnitine palmitoyl transferase ll deficiency,late onset0
25Carnitine palmitoyl transferase ll deficiency,lethal neonatal0
26Carnitine transporter deficiency1
27Citrullinemia1
28Cobalamin G0
29CoblC- CoblG- CoblF6
30Cockayne syndrome0
31Combined oxidation phosphorylation deficiency 6 (cow check syndrome)4
32Congenital Disorder of glycosilation0
33Creatine Deficiency 1
34Cystinosis0
35Cystinuria0
36D-2-Hydroxyglutaric aciduria4
37Deficiency of the pyruvate dehydrogenase complex0
38Dihydropyrimidine dehydrogenase deficiency1
39ethylmalonic - adipic aciduria0
40Ethylmalonic encephalopathy (EE)2
41Fabry disease0
42Familial hypercholesterolemia0
43Fructose-1,6-biphosphatase deficiency2
44Fucosidosis0
45Galactosemia0
46Galactosialidosis0
47Gaucher disease0
48glucose transporter1 deficiency2
49Glutamine synthetase deficiency0
50Glutaric aciduria type l20
51Glutaric aciduria type ll1
52Glycogen storage diseases0
53Glycogenosis type 1- Von Gierke disease0
54Glycogenosis type 2 /Pompe2
55Glycogenosis type 3 0
56Glycogenosis type 3 / amylo-10
57Glycogenosis type 40
58Glycogenosis type 50
59Glycogenosis type 60
60Glycogenosis type 70
61GM1 gangliosidosis (Juvenile)2
62GM1 gangliosidosis type I (Infantile-Late)4
63GM1 gangliosidosis type II 0
64GM2 activator deficiency2
65GM2 gangliosidosis(Sandhoff disease)1
66GM2 gangliosidosis(Tay-sachs disease)3
67Hartnup disease0
68hepatorenal tyrosinemia0
69HIBCH deficiency1
70holocarboxylase synthetase deficiency0
71homocisteine transferase deficiency0
72Homocystinuria4
73Hunter disease1
74Hurler disease0
75Hyperornithinemia1
76Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)1
77Hyperphenylalaninemia0
78Hypoglycemia occipital-lobe-epilepsy syndrome1
79isovaleric acidemia5
80Keans-Sayre syndrome0
81Krabbe disease4
82L-2 Hydroxyglutaric aciduria5
83l-cell disease/mucolipidosis ll0
84Leigh syndrome5
85Lesch-Nyhan disease and variants0
86Leukodystrophy0
87Long chain L-3-hydroxyacyl CoA dehydrogenase-(trifunctional protein deficiency)0
88Lysinuric protein intolerance0
89Maple syrup urine disease(MSUD)2
90Maroteaux-Lamy disease/mucopolysaccharidosis Vl0
91Medium chain acyl CoA dehydrogenase deficiency(MCAD)3
92Menkes disease1
93Metachromatic leukodystrophy(MLD)7
94Methylmalonic acidemia22
95methylmalonic aciduria and homocystinuria(Cobalamin C Deficiency)15
96methylmalonic aciduria and homocystinuria(Cobalamin E Deficiency)0
97methylmalonic aciduria and homocystinuria(Cobalamin G Deficiency)1
98Mevalonic aciduria0
99Mitochondrial acetoacetyl-CoA thiolase(3-oxothiolase)deficiency0
100Mitochondrial cytochrome c oxidase (COX) deficiency2
101Mitochondrial dysfunction17
102Mitochondrial encephalomyelopathy,lactic acidosis,and stroke-like episodes(MELAS)2
103Molybdenum cofactor Deficiency2
104Morquio syndrome/mucopolysaccharidosis type lV1
105Mucolipidosis0
106Mucolipidosis lll0
107Multiple acyl CoA dehydrogenase deficiency/ Glutaric aciduria type II/ ethylmalonic-adipic aciduria1
108Multiple carboxylase deficiency /holocarboxylase synthetase deficiency0
109Multiple sulfatase deficiency1
110Myoclonic epilepsy and ragged red fiber(MERRF)disease0
111Neonatal adrenoleukodystrophy0
112Neonatal Ceroid Lipofuscinosis(NCL)7
113Neurodegeneration with Brain Iron Accumulation(NBIA)1
114Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)0
115Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)0
116Neurodegenerative disorder2
117Neuropathy,Russse type1
118Neurotransmitter Disorder2
119Niemann-pick A/B disease1
120Niemann-pick type C disease19
121Nonketotic hyperglycinemia0
122NOTCH3(Cerebral artropathy with subcortical infarcts and leukoencephalopathy1)0
123oculocutaneous tyrosinemia0
124Ornithine transcarbamylase deficiency1
125Orotic aciduria1
126oxothiolase deficiency1
127Pearson syndrome0
128phenylketonuria6
129Propionic acidemia3
130Pyruvate carboxylase deficiency0
131Pyruvate Dehydrogenase deficiency1
132Sandhoff disease11
133Scheie and Hurler-Scheie diseases0
134Short-chain acyl CoA dehydrogenase deficiency0
135Sly disease0
136Succinate Dehydrogenase Deficiency4
137Tay-sachs disease3
138The mitochondrial DNA depletion syndromes0
139Thiamine Dysfunction2
140Thiamine Responsive Megaloblastic Anemia(TRMA Anemia)1
141Tyrosinemia2
142vanishing white mather1
143Very long chain acyl CoA dehydrogenase deficiency0
144Wolman disease0
145Zellweger6