Registered cases - Iranian Registry of Neurometabolic Disease

Gender	Count
Male	2
Female	5

#	Diagnose names	Count
1	glutaric aciduria type ll	2
2	3-Hydroxy-3-methylglutarylCoA lyase deficiency	0
3	3-HydroxyacylCoA dehydrogenase(Short-chain 3- HydroxyacylCoA dehydrogenase) Deficiency	2
4	3-Methylglutaconic aciduria (MGA)	2
5	3methylcrotonyl glycinuria	1
6	4Hydroxybutyric aciduria	0
7	?- Pyrroline-5-Carboxylase Reductase deficiency	1
8	Adenylosuccinate lyase deficiency(ADSL)	1
9	Adrenoleukodystrophy	19
10	Alexander Disease	1
11	Alfa-Mannosidosis	0
12	Alkaptonuria	0
13	Argininemia	0
14	Argininosuccinic aciduria	0
15	Aromatic L-Amino acid Decarboxylase Deficiency (AADC)	1
16	Ataxia with Oculomotor Apraxia Type 1 (AOA1)	5
17	Biotin-Thiamine- Responsive B6 Disease	2
18	Biotinidase deficiency	21
19	Branched Chain Ketoacid dehydrogenase kinas deficiency(BCKDK)	3
20	Canavan	8
21	Carbamylphosphate synthetase deficiency	0
22	Carnitine -acylcarnitine translocase deficiency	0
23	Carnitine palmitoyl transferase l deficiency	0
24	Carnitine palmitoyl transferase ll deficiency,late onset	0
25	Carnitine palmitoyl transferase ll deficiency,lethal neonatal	0
26	Carnitine transporter deficiency	1
27	Citrullinemia	1
28	Cobalamin G	1
29	CoblC- CoblG- CoblF	7
30	Cockayne syndrome	0
31	Combined oxidation phosphorylation deficiency 6 (cow check syndrome)	4
32	Congenital Disorder of glycosilation	0
33	Creatine Deficiency	1
34	Cystinosis	0
35	Cystinuria	0
36	D-2-Hydroxyglutaric aciduria	4
37	Deficiency of the pyruvate dehydrogenase complex	0
38	Developmental and epileptic Encephalopathy	1
39	Dihydropyrimidine dehydrogenase deficiency	1
40	ethylmalonic - adipic aciduria	0
41	Ethylmalonic encephalopathy (EE)	2
42	Fabry disease	0
43	Familial hypercholesterolemia	0
44	Fructose-1,6-biphosphatase deficiency	2
45	Fucosidosis	0
46	Galactosemia	0
47	Galactosialidosis	0
48	Gaucher disease	0
49	GHMP KINASE	1
50	glucose transporter1 deficiency	2
51	Glutamine synthetase deficiency	0
52	Glutaric aciduria type l	20
53	Glutaric aciduria type ll	1
54	Glycogen storage diseases	0
55	Glycogenosis type 1- Von Gierke disease	0
56	Glycogenosis type 2 /Pompe	2
57	Glycogenosis type 3	0
58	Glycogenosis type 3 / amylo-1	0
59	Glycogenosis type 4	0
60	Glycogenosis type 5	0
61	Glycogenosis type 6	0
62	Glycogenosis type 7	0
63	GM1 gangliosidosis (Juvenile)	2
64	GM1 gangliosidosis type I (Infantile-Late)	4
65	GM1 gangliosidosis type II	0
66	GM2 activator deficiency	2
67	GM2 gangliosidosis(Sandhoff disease)	1
68	GM2 gangliosidosis(Tay-sachs disease)	3
69	Hartnup disease	0
70	hepatorenal tyrosinemia	0
71	HIBCH deficiency	1
72	holocarboxylase synthetase deficiency	0
73	homocisteine transferase deficiency	1
74	Homocystinuria	4
75	Hunter disease	1
76	Hurler disease	0
77	Hyper phosphatasia	2
78	Hyperornithinemia	1
79	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)	1
80	Hyperphenylalaninemia	0
81	Hypoglycemia occipital-lobe-epilepsy syndrome	1
82	isovaleric acidemia	5
83	joubert syndrome	0
84	Keans-Sayre syndrome	0
85	Krabbe disease	4
86	L-2 Hydroxyglutaric aciduria	5
87	l-cell disease/mucolipidosis ll	0
88	LAFORA DISEASE	1
89	Leigh syndrome	5
90	Lesch-Nyhan disease and variants	0
91	Leukodystrophy	0
92	Long chain L-3-hydroxyacyl CoA dehydrogenase-(trifunctional protein deficiency)	0
93	Lysinuric protein intolerance	0
94	Maple syrup urine disease(MSUD)	3
95	Maroteaux-Lamy disease/mucopolysaccharidosis Vl	0
96	Medium chain acyl CoA dehydrogenase deficiency(MCAD)	3
97	Menkes disease	1
98	Metachromatic leukodystrophy(MLD)	8
99	methyl malonic semialdehyde dehydrogenase deficiency	1
100	Methylmalonic acidemia	22
101	methylmalonic aciduria and homocystinuria(Cobalamin C Deficiency)	16
102	methylmalonic aciduria and homocystinuria(Cobalamin E Deficiency)	0
103	methylmalonic aciduria and homocystinuria(Cobalamin G Deficiency)	1
104	Mevalonic aciduria	2
105	Mitochondrial acetoacetyl-CoA thiolase(3-oxothiolase)deficiency	0
106	Mitochondrial cytochrome c oxidase (COX) deficiency	2
107	Mitochondrial DNA Deptetion syndrom 7	1
108	Mitochondrial dysfunction	19
109	Mitochondrial encephalomyelopathy,lactic acidosis,and stroke-like episodes(MELAS)	2
110	Molybdenum cofactor Deficiency	2
111	Morquio syndrome/mucopolysaccharidosis type lV	1
112	Mucolipidosis	0
113	Mucolipidosis lll	0
114	Multiple acyl CoA dehydrogenase deficiency/ Glutaric aciduria type II/ ethylmalonic-adipic aciduria	1
115	Multiple carboxylase deficiency /holocarboxylase synthetase deficiency	0
116	Multiple sulfatase deficiency	1
117	Myoclonic epilepsy and ragged red fiber(MERRF)disease	0
118	Neonatal adrenoleukodystrophy	0
119	Neonatal Ceroid Lipofuscinosis(NCL)	7
120	Neurodegeneration with Brain Iron Accumulation(NBIA)	1
121	Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)	0
122	Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)	0
123	Neurodegenerative disorder	2
124	Neuropathy,Russse type	1
125	Neurotransmitter Disorder	2
126	Niemann-pick A/B disease	1
127	Niemann-pick type C disease	19
128	Nonketotic hyperglycinemia	0
129	NOTCH3(Cerebral artropathy with subcortical infarcts and leukoencephalopathy1)	0
130	OBESITY	1
131	oculocutaneous tyrosinemia	0
132	Ornithine transcarbamylase deficiency	1
133	Orotic aciduria	2
134	oxothiolase deficiency	1
135	Pearson syndrome	0
136	phenylketonuria	6
137	Pontocerebellar hypoplusia	1
138	Propionic acidemia	3
139	Pyruvate carboxylase deficiency	0
140	Pyruvate Dehydrogenase deficiency	1
141	Sandhoff disease	11
142	Scheie and Hurler-Scheie diseases	0
143	Short-chain acyl CoA dehydrogenase deficiency	0
144	Sly disease	0
145	Succinate Dehydrogenase Deficiency	4
146	Tay-sachs disease	3
147	The mitochondrial DNA depletion syndromes	0
148	Thiamine Dysfunction	2
149	Thiamine Responsive Megaloblastic Anemia(TRMA Anemia)	1
150	Tyrosinemia	2
151	vanishing white mather	1
152	Very long chain acyl CoA dehydrogenase deficiency	0
153	Wolman disease	0
154	Zellweger	6

1

glutaric aciduria type ll

2

3-Hydroxy-3-methylglutarylCoA lyase deficiency

0

3

3-HydroxyacylCoA dehydrogenase(Short-chain 3- HydroxyacylCoA dehydrogenase) Deficiency

2

4

3-Methylglutaconic aciduria (MGA)

2

5

3methylcrotonyl glycinuria

1

6

4Hydroxybutyric aciduria

0

7

?- Pyrroline-5-Carboxylase Reductase deficiency

1

8

Adenylosuccinate lyase deficiency(ADSL)

1

9

Adrenoleukodystrophy

19

10

Alexander Disease

1

11

Alfa-Mannosidosis

0

12

Alkaptonuria

0

13

Argininemia

0

14

Argininosuccinic aciduria

0

15

Aromatic L-Amino acid Decarboxylase Deficiency (AADC)

1

16

Ataxia with Oculomotor Apraxia Type 1 (AOA1)

5

17

Biotin-Thiamine- Responsive B6 Disease

2

18

Biotinidase deficiency

21

19

Branched Chain Ketoacid dehydrogenase kinas deficiency(BCKDK)

3

20

Canavan

8

21

Carbamylphosphate synthetase deficiency

0

22

Carnitine -acylcarnitine translocase deficiency

0

23

Carnitine palmitoyl transferase l deficiency

0

24

Carnitine palmitoyl transferase ll deficiency,late onset

0

25

Carnitine palmitoyl transferase ll deficiency,lethal neonatal

0

26

Carnitine transporter deficiency

1

27

Citrullinemia

1

28

Cobalamin G

1

29

CoblC- CoblG- CoblF

7

30

Cockayne syndrome

0

31

Combined oxidation phosphorylation deficiency 6 (cow check syndrome)

4

32

Congenital Disorder of glycosilation

0

33

Creatine Deficiency

1

34

Cystinosis

0

35

Cystinuria

0

36

D-2-Hydroxyglutaric aciduria

4

37

Deficiency of the pyruvate dehydrogenase complex

0

38

Developmental and epileptic Encephalopathy

1

39

Dihydropyrimidine dehydrogenase deficiency

1

40

ethylmalonic - adipic aciduria

0

41

Ethylmalonic encephalopathy (EE)

2

42

Fabry disease

0

43

Familial hypercholesterolemia

0

44

Fructose-1,6-biphosphatase deficiency

2

45

Fucosidosis

0

46

Galactosemia

0

47

Galactosialidosis

0

48

Gaucher disease

0

49

GHMP KINASE

1

50

glucose transporter1 deficiency

2

51

Glutamine synthetase deficiency

0

52

Glutaric aciduria type l

20

53

Glutaric aciduria type ll

1

54

Glycogen storage diseases

0

55

Glycogenosis type 1- Von Gierke disease

0

56

Glycogenosis type 2 /Pompe

2

57

Glycogenosis type 3

0

58

Glycogenosis type 3 / amylo-1

0

59

Glycogenosis type 4

0

60

Glycogenosis type 5

0

61

Glycogenosis type 6

0

62

Glycogenosis type 7

0

63

GM1 gangliosidosis (Juvenile)

2

64

GM1 gangliosidosis type I (Infantile-Late)

4

65

GM1 gangliosidosis type II

0

66

GM2 activator deficiency

2

67

GM2 gangliosidosis(Sandhoff disease)

1

68

GM2 gangliosidosis(Tay-sachs disease)

3

69

Hartnup disease

0

70

hepatorenal tyrosinemia

0

71

HIBCH deficiency

1

72

holocarboxylase synthetase deficiency

0

73

homocisteine transferase deficiency

1

74

Homocystinuria

4

75

Hunter disease

1

76

Hurler disease

0

77

Hyper phosphatasia

2

78

Hyperornithinemia

1

79

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)

1

80

Hyperphenylalaninemia

0

81

Hypoglycemia occipital-lobe-epilepsy syndrome

1

82

isovaleric acidemia

5

83

joubert syndrome

0

84

Keans-Sayre syndrome

0

85

Krabbe disease

4

86

L-2 Hydroxyglutaric aciduria

5

87

l-cell disease/mucolipidosis ll

0

88

LAFORA DISEASE

1

89

Leigh syndrome

5

90

Lesch-Nyhan disease and variants

0

91

Leukodystrophy

0

92

Long chain L-3-hydroxyacyl CoA dehydrogenase-(trifunctional protein deficiency)

0

93

Lysinuric protein intolerance

0

94

Maple syrup urine disease(MSUD)

3

95

Maroteaux-Lamy disease/mucopolysaccharidosis Vl

0

96

Medium chain acyl CoA dehydrogenase deficiency(MCAD)

3

97

Menkes disease

1

98

Metachromatic leukodystrophy(MLD)

8

99

methyl malonic semialdehyde dehydrogenase deficiency

1

100

Methylmalonic acidemia

22

101

methylmalonic aciduria and homocystinuria(Cobalamin C Deficiency)

16

102

methylmalonic aciduria and homocystinuria(Cobalamin E Deficiency)

0

103

methylmalonic aciduria and homocystinuria(Cobalamin G Deficiency)

1

104

Mevalonic aciduria

2

105

Mitochondrial acetoacetyl-CoA thiolase(3-oxothiolase)deficiency

0

106

Mitochondrial cytochrome c oxidase (COX) deficiency

2

107

Mitochondrial DNA Deptetion syndrom 7

1

108

Mitochondrial dysfunction

19

109

Mitochondrial encephalomyelopathy,lactic acidosis,and stroke-like episodes(MELAS)

2

110

Molybdenum cofactor Deficiency

2

111

Morquio syndrome/mucopolysaccharidosis type lV

1

112

Mucolipidosis

0

113

Mucolipidosis lll

0

114

Multiple acyl CoA dehydrogenase deficiency/ Glutaric aciduria type II/ ethylmalonic-adipic aciduria

1

115

Multiple carboxylase deficiency /holocarboxylase synthetase deficiency

0

116

Multiple sulfatase deficiency

1

117

Myoclonic epilepsy and ragged red fiber(MERRF)disease

0

118

Neonatal adrenoleukodystrophy

0

119

Neonatal Ceroid Lipofuscinosis(NCL)

7

120

Neurodegeneration with Brain Iron Accumulation(NBIA)

1

121

Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)

0

122

Neurodegeneration.ataxia,and retinitis pigmentosa(NARP)

0

123

Neurodegenerative disorder

2

124

Neuropathy,Russse type

1

125

Neurotransmitter Disorder

2

126

Niemann-pick A/B disease

1

127

Niemann-pick type C disease

19

128

Nonketotic hyperglycinemia

0

129

NOTCH3(Cerebral artropathy with subcortical infarcts and leukoencephalopathy1)

0

130

OBESITY

1

131

oculocutaneous tyrosinemia

0

132

Ornithine transcarbamylase deficiency

1

133

Orotic aciduria

2

134

oxothiolase deficiency

1

135

Pearson syndrome

0

136

phenylketonuria

6

137

Pontocerebellar hypoplusia

1

138

Propionic acidemia

3

139

Pyruvate carboxylase deficiency

0

140

Pyruvate Dehydrogenase deficiency

1

141

Sandhoff disease

11

142

Scheie and Hurler-Scheie diseases

0

143

Short-chain acyl CoA dehydrogenase deficiency

0

144

Sly disease

0

145

Succinate Dehydrogenase Deficiency

4

146

Tay-sachs disease

3

147

The mitochondrial DNA depletion syndromes

0

148

Thiamine Dysfunction

2

149

Thiamine Responsive Megaloblastic Anemia(TRMA Anemia)

1

150

Tyrosinemia

2

151

vanishing white mather

1

152

Very long chain acyl CoA dehydrogenase deficiency

0

153

Wolman disease

0

154

Zellweger

6