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 G1
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
48GHMP KINASE0
49glucose transporter1 deficiency2
50Glutamine synthetase deficiency0
51Glutaric aciduria type l20
52Glutaric aciduria type ll1
53Glycogen storage diseases0
54Glycogenosis type 1- Von Gierke disease0
55Glycogenosis type 2 /Pompe2
56Glycogenosis type 3 0
57Glycogenosis type 3 / amylo-10
58Glycogenosis type 40
59Glycogenosis type 50
60Glycogenosis type 60
61Glycogenosis type 70
62GM1 gangliosidosis (Juvenile)2
63GM1 gangliosidosis type I (Infantile-Late)4
64GM1 gangliosidosis type II 0
65GM2 activator deficiency2
66GM2 gangliosidosis(Sandhoff disease)1
67GM2 gangliosidosis(Tay-sachs disease)3
68Hartnup disease0
69hepatorenal tyrosinemia0
70HIBCH deficiency1
71holocarboxylase synthetase deficiency0
72homocisteine transferase deficiency0
73Homocystinuria4
74Hunter disease1
75Hurler disease0
76Hyper phosphatasia1
77Hyperornithinemia1
78Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)1
79Hyperphenylalaninemia0
80Hypoglycemia occipital-lobe-epilepsy syndrome1
81isovaleric acidemia5
82Keans-Sayre syndrome0
83Krabbe disease4
84L-2 Hydroxyglutaric aciduria5
85l-cell disease/mucolipidosis ll0
86LAFORA DISEASE1
87Leigh syndrome5
88Lesch-Nyhan disease and variants0
89Leukodystrophy0
90Long chain L-3-hydroxyacyl CoA dehydrogenase-(trifunctional protein deficiency)0
91Lysinuric protein intolerance0
92Maple syrup urine disease(MSUD)2
93Maroteaux-Lamy disease/mucopolysaccharidosis Vl0
94Medium chain acyl CoA dehydrogenase deficiency(MCAD)3
95Menkes disease1
96Metachromatic leukodystrophy(MLD)7
97Methylmalonic acidemia22
98methylmalonic aciduria and homocystinuria(Cobalamin C Deficiency)15
99methylmalonic aciduria and homocystinuria(Cobalamin E Deficiency)0
100methylmalonic aciduria and homocystinuria(Cobalamin G Deficiency)1
101Mevalonic aciduria2
102Mitochondrial acetoacetyl-CoA thiolase(3-oxothiolase)deficiency0
103Mitochondrial cytochrome c oxidase (COX) deficiency2
104Mitochondrial dysfunction18
105Mitochondrial encephalomyelopathy,lactic acidosis,and stroke-like episodes(MELAS)2
106Molybdenum cofactor Deficiency2
107Morquio syndrome/mucopolysaccharidosis type lV1
108Mucolipidosis0
109Mucolipidosis lll0
110Multiple acyl CoA dehydrogenase deficiency/ Glutaric aciduria type II/ ethylmalonic-adipic aciduria1
111Multiple carboxylase deficiency /holocarboxylase synthetase deficiency0
112Multiple sulfatase deficiency1
113Myoclonic epilepsy and ragged red fiber(MERRF)disease0
114Neonatal adrenoleukodystrophy0
115Neonatal Ceroid Lipofuscinosis(NCL)7
116Neurodegeneration with Brain Iron Accumulation(NBIA)1
117Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)0
118Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)0
119Neurodegenerative disorder2
120Neuropathy,Russse type1
121Neurotransmitter Disorder2
122Niemann-pick A/B disease1
123Niemann-pick type C disease19
124Nonketotic hyperglycinemia0
125NOTCH3(Cerebral artropathy with subcortical infarcts and leukoencephalopathy1)0
126OBESITY0
127oculocutaneous tyrosinemia0
128Ornithine transcarbamylase deficiency1
129Orotic aciduria1
130oxothiolase deficiency1
131Pearson syndrome0
132phenylketonuria6
133Propionic acidemia3
134Pyruvate carboxylase deficiency0
135Pyruvate Dehydrogenase deficiency1
136Sandhoff disease11
137Scheie and Hurler-Scheie diseases0
138Short-chain acyl CoA dehydrogenase deficiency0
139Sly disease0
140Succinate Dehydrogenase Deficiency4
141Tay-sachs disease3
142The mitochondrial DNA depletion syndromes0
143Thiamine Dysfunction2
144Thiamine Responsive Megaloblastic Anemia(TRMA Anemia)1
145Tyrosinemia2
146vanishing white mather1
147Very long chain acyl CoA dehydrogenase deficiency0
148Wolman disease0
149Zellweger6