Aromatic amino acid metabolism

No.	Disease name
1	phenylketonuria
2	hyperphenylalaninemia
3	tyrosinemia type I
4	tyrosinemia type II
5	tyrosinemia type III
6	aromatic amino acid decarboxylase deficiency
7	hawkinsinuria
8	alcaptonuria
9	defects in the synthesis of BH4
10	defects in the recycling of BH4
11	neonatal transient hyperphenylalaninemia
12	secondary mild phenylketonuria due to total parenteral nutrition
13	secondary mild phenylketonuria due to methotrexate
14	neonatal transient tyrosinemia
15	secondary tyrosinemia due to other drugs
16	secondary tyrosinemia due to other inborn errors of metabolism

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Branched-chain amino acid metabolism

No.	Disease name
17	hypervalinemia
18	hyper leucine isoleusinemia
19	maple syrup urine disease
20	dihydrolipoyl dehydrogenase deficiency
21	isovaleric acidemia
22	α-methylbutyryl-CoA dehydrogenase deficiency
23	multiple acyl-CoA dehydrogenase deficiency
24	isobutyryl-CoA dehydrogenase deficiency
25	β-methylcrotonylglycinuria
26	α-methyl-β-hydroxybutyryl-CoA dehydrogenase deficiency
27	multiple carboxylase deficiency due to HCSD
28	multiple carboxylase deficiency due to biotinidase deficiency
29	β-methylglutaconic aciduria
30	β-hydroxy-β-methylglutaric aciduria
31	β-ketothiolase deficiency
32	β-hydroxyisobutyryl-CoA deacylase deficiency
33	β-hydroxyisobutyrate dehydrogenase deficiency
34	methylmalonic semialdehyde dehydrogenase deficiency
35	propionic acidemia
36	methylmalonic acidemia (mutase)
37	methylmalonic acidemia (isomerase)
38	B12-responsive methylmalonic acidemia

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Primary hyperammonemias and citrin deficiency

No.	Disease name
39	carbamoylphosphate synthetase deficiency
40	N-acetylglutamate synthetase deficiency
41	ornithine transcarbamylase deficiency
42	citrullinemia
43	argininosuccinic aciduria
44	hyperargininemia
45	lysinuric protein intolerance
46	hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
47	citrin deficiency
48	transient neonatal hyperammonemia
49	hyperammonemia due to other origin

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Transport and other disorders

No.	Disease name
50	cystinuria
51	Hartnup disease
52	Dibasic amino aciduria
53	Iminoglycinuria
54	secondary iminoglycinuria
55	transient neonatal iminoglycinuria
56	Fanconi syndrome
57	hereditary renal hypouricemia
58	hypophosphatasia

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Metabolism of Lys, Trp and Orn

No.	Disease name
59	glutaric aciduria type I
60	glutaric aciduria type III
61	saccaropinuria
62	pipecolic acidemia
63	α-aminoadipic aciduria
64	tryptophanuria
65	xanthurenic aciduria (kynureninase deficiency)
66	xanthurenic aciduria due to B6 deficiency
67	α-aminoadipic α-ketoadipic aciduria
68	hydroxylysinuria
69	hyperornithinemia

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Sulfur-containing amino acid, folate, cbl

No.	Disease name
70	homocystinuria type I (cystathionine β- synthase (CBS) deficiency)
71	homocystinuria type II, 5-methyltetrahydrofolate-homocysteine methyltransferase deficiency
72	homocystinuria type III (5,10-methylenetetrahydrofolate reductase deficiency)
73	γ-cystathionase deficiency (cystathionuria)
74	hypermethioninemia
75	hereditary folate malabsorption

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α-hydroxyglutaric aciduria

No.	Disease name
76	D-α-hydroxyglutaric aciduria
77	L-α-hydroxyglutaric aciduria
78	D&L α-hydroxyglutaric aciduria

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Metabolism of Pro, Gly, His, β- alanine and others

No.	Disease name
79	hyperprolinemia type I
80	hyperprolinemia type II
81	hydroxyprolinemia
82	hyperglycinemia
83	sarcosinemia
84	hyper β-alaninemia
85	malonyl-CoA decarboxylase deficiency
86	hyperhistisinemia
87	urocanic aciduria
88	primary hyperoxaluria type I, alanine: glyoxylate aminotransferase (AGT) deficiency
89	primary hyperoxaluria type II, D-glycerate dehydrogenase/glyoxylate reduetase deficiency
90	primary hyperoxaluria type III, 4-hydroxy-2-oxoglutarate aldolase 1 gene (HOGA1) deficiency
91	D-glycerate kinase deficiency
92	Succinic semialdehyde dehydrogenase deficiency, 4-hydroxybutyric aciduria
93	glycerol kinase deficiency
94	Canavan disease
95	5-oxoprolinuria due to glutathione synthetase deficeincy
96	5-oxoprolinuria due to 5-oxoprolinase deficiency
97	prolidase deficiency

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Carbohydrate metabolism

No.	Disease name
98	galactosemia type I
99	galactosemia type II
100	galactosemia type III
101	galactosemia type IV
102	fructose intolerance
103	renal glucosuria
104	diabetes mellitus
105	glucose-6-phosphatase deficiency
106	fructose-1, 6-diphosphatase deficiency

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TCA cycle metabolism & Mitochondrial disease

No.	Disease name
107	pyruvate carboxylase deficiency
108	lactic aciduria (lactic acidemia)
109	α-ketoglutaric aciduria
110	fumaric aciduria
111	pyruvate dehydrogenase deficiency
112	dihydrolipoyl transacetylase deficiency
113	pyruvate dehydrogenase phosphatase deficiency
114	thiamine-responsive pyruvate dehydrogenase deficiency
115	defect in electron transport system
116	dihydrolipoyl dehydrogenase deficiency
117	Short-chain enoyl-CoA hydratase (SCEH, OMIM*602292) deficiency
118	3-hydroxyisobutyryl-CoA hydrolase (HIBCH, OMIM 250620) deficiency
119	Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase (HMCS2) deficiency
120	Cytochrome C oxidase deficiency (COX deficiency)
121	Combined malonic and methylmalonic aciduria
122	Barth syndrome (3-Methylglutaconic Aciduria TypeII)
123	MEGDEL Syndrome, (3-Methylglutaconic Aciduria TypeV)
124	other Secondary 3-methylglutaconic aciduria
125	Ethylmalonic encephalopathy (EE, OMIM # 602473)
126	Succinyl-CoA ligase(SUCL) deficiency

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Neuroblastoma and Zellwerger syndrome

No.	Disease name
127	neuroblastoma
128	Zellwerger syndrome

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Metabolism of purine and pyrimidine

No.	Disease name
129	molybdenum cofactor deficiency
130	xanthine oxydase deficiency, xanthinuria
131	dihydropyrimidine dehydrogenase deficiency
132	dihydropyrimidine hydrolase deficiency
133	β-ureidopropionase deficeincy
134	Lesch Nyhan syndrome
135	hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency
136	adenine phosphoribosyltransferase (APRT) deficiency
137	orotic aciduria
138	Adenylosuccinate Lyase Deficiency:ASLD

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Fatty acid metabolism and Vitamines

No.	Disease name
139	trifunctional protein deficiency
140	3-hydroxyacyl-CoA dehydrogenase deficiency
141	medium chain acyl-CoA dehydrogenase deficiency
142	medium chain β-ketothiolase deficiency
143	short chain acyl-CoA dehydrogenase deficiency
144	medium/short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
145	molybdenum deficiency
146	biotin deficiency
147	folate deficiency
148	B12 deficiency

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Other

No.	Disease name
149	Aminoacylase-1 deficiency (ACY1D)
150	Mevalonic aciduria (MEVA)
151	Pyroglutamic aciduria
152	Pyridoxine Dependent Epilepsy (ALDH7A1 deficiency)
153	Pyridoxamine 5'-Phosphate Oxidase Deficiency
154	cerebrotendinous xanthomatosis:CTX, B
155	Sitosterolemia, B
156	Ribose 5-phosphate isomerase (RPI) deficiency
157	Transaldolase (TALDO) deficiency
158	Asparagine Synthetase Deficiency, CSF
159	Adenosine Deaminase Deficiency
160	Brunner syndrome
161	Serine deficiency CSF

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