Medium-chain acyl-CoA dehydrogenase deficiency

中鏈乙酰輔酶A脫氫酶缺乏症

Short-chain acyl-CoA dehydrogenase deficiency

短鏈酰基輔酶A脫氫酶缺乏症

Very long-chain acyl-CoA dehydrogenase deficiency

極長鏈酰基輔酶A脫氫酶缺乏症

Beta-ketothiolase deficiency

β-酮硫解酶缺乏症

Aspartylglucosaminuria

天冬氨酰葡糖胺尿症

Glycogen storage disease type III

糖原貯積病III型

Sjögren-Larsson syndrome

Sjogren-Larsson綜合症

Hereditary fructose intolerance

遺傳性果糖不耐受症

Congenital disorder of glycosylation

先天性糖基化障礙

Hypophosphatasia

低磷酸酯酶症

Arginase deficiency

精氨酸酶缺乏症

Metachromatic leukodystrophy

異染性腦白質營養不良

Mucopolysaccharidosis type VI

粘多醣貯積症VI型

Argininosuccinate lyase deficiency

精氨琥珀酸裂解酶缺乏症

Citrullinemia type I

瓜氨酸血症I型

Wilson disease

Wilson病

Bardet-Biedl syndrome types 1, 2 and 10

巴-比二氏綜合症1，2及10型

Maple syrup urine disease types Ia, Ib and II

楓糖尿症Ia型、Ib型和II型

Biotinidase deficiency

生物素酶缺乏症

Homocystinuria

高胱氨酸尿症

Dihydrolipoamide dehydrogenase deficiency

二氫硫辛酰胺脫氫酶缺乏症

Carnitine palmitoyltransferase I deficiency

肉鹼棕櫚酰轉移酶I缺乏症

Carnitine palmitoyltransferase II deficiency

晚發型肉鹼棕櫚酰轉移酶II缺乏症

Cystinosis

胱氨酸貯積症

Neuronal ceroid lipofuscinosis

神經元蠟樣質脂褐質沉積病

Cerebrotendinous xanthomatosis

腦腱黃瘤病

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz綜合症

Dihydropyrimidine dehydrogenase deficiency

二氫嘧啶脫氫酶缺乏症

Glutaric acidemia type II

戊二酸血症II型

Ethylmalonic encephalopathy

乙基丙二酸腦病

Tyrosinemia type I

酪氨酸血症I型

Glucose-6-phosphate dehydrogenase deficiency

葡萄糖-6-磷酸脫氫酶缺乏症

Glycogen storage disease type II

糖原貯積病II型

Krabbe disease

Krabbe病

Mucopolysaccharidosis type IV, subtype A

粘多醣貯積症IV A型

Galactosemia type I

半乳糖血症I型

Glycogen storage disease type IV

糖原貯積病IV型

Glutaric acidemia type I

戊二酸血症I型

Mucopolysaccharidosis type VII

粘多醣貯積症VII型

Fabry disease

Fabry病

GLB1-related disorders

GM1神經節苷脂貯積症及黏多醣貯積症IVB型

Glycine encephalopathy

甘氨酸腦病

Mucolipidosis II alpha/beta and Mucolipidosis III alpha/beta

黏脂質貯積症IIα/IIβ型和IIIα/IIIβ型

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

長鏈3-羥酰基輔酶A脫氫酶缺乏病

Hexosaminidase A deficiency, including Tay-Sachs disease

Tay-Sachs病

Sandhoff disease

Sandhoff病

Holocarboxylase synthetase deficiency

羧化全酶合成酶缺乏症

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

3-羥基-3-甲基戊二酰輔酶A裂解酶缺乏症

Mucopolysaccharidosis type II

粘多醣貯積症II型

Mucopolysaccharidosis type I

粘多醣貯積症I型

Isovaleric academia

異戊酸血症

Lysosomal acid lipase deficiency

溶酶體酸性脂肪酶缺乏症

Alpha-mannosidosis

α-甘露糖苷貯積症

Mucolipidosis type IV

黏脂質貯積症IV型

MLC1-related megalencephalic leukoencephalopathy with subcortical cysts

MLC1相關巨腦性腦白質營養不良伴皮質下囊腫

Isolated methylmalonic academia

單純型甲基丙二酸血症

Methylmalonic acidemia with homocystinuria type cblC

甲基丙二酸血症伴同型半胱氨酸血症cblC型

Abetalipoproteinemia

無β-脂蛋白血症

Ornithine transcarbamylase deficiency

鳥氨酸氨甲酰基轉移酶缺乏症

Phenylalanine hydroxylase deficiency

苯丙氨酸羥化酶缺乏症

Pyruvate carboxylase deficiency

丙酮酸羧化酶缺乏症

Propionic academia

丙酸血症

Peroxisome biogenesis disorders, Zellweger syndrome spectrum

過氧化物酶體生物合成障礙及澤爾韋格綜合症譜系

Rhizomelic chondrodysplasia punctata type 1

肢近端型點狀軟骨發育不良I型

BH4-deficient hyperphenylalaninemia

四氫生物喋呤缺乏症

Glycogen storage disease type V

糖原貯積病V型

Mucopolysaccharidosis type III

粘多醣貯積症III型

Sialic acid storage disease, including Salla disease

唾液酸貯積症（包括Salla病）

Systemic primary carnitine deficiency

原發性肉鹼缺乏症

Citrin deficiency

希特林蛋白缺乏症

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

高鳥氨酸血症-高氨血症-同型瓜氨酸尿症綜合症

Glycogen storage disease type I, subtypes Ia and Ib

糖原貯積病I型

Lysinuric protein intolerance

賴氨酸尿性蛋白不耐受症

Niemann-Pick disease types A, B, C1 and C2

尼曼-匹克病A，B，C1和C2型

Multiple sulfatase deficiency

多種硫酸酯酶缺乏症

Tyrosine hydroxylase deficiency

酪氨酸羥化酶缺乏症

Ataxia with vitamin E deficiency

共濟失調伴維生素E缺乏症

X-linked adrenoleukodystrophy
X連鎖腎上腺腦白質營養不良

Adenosine deaminase deficiency

腺苷脫氨酶缺乏症

X-linked agammaglobulinemia

X連鎖無丙種球蛋白血症

Immunodeficiency with hyper-IgM type 1

高IgM免疫缺陷病I型

X-linked chronic granulomatous disease

X連鎖慢性肉芽腫性疾病

Fanconi anemia, complementation group C

範可尼貧血互補群C型

Autosomal recessive severe congenital neutropenia

常染色體隱性遺傳重症先天性中性白細胞減少症

Alpha-thalassemia

α-地中海貧血

Beta-hemoglobinopathies, including beta-thalassemia and sickle cell disease

β-血紅蛋白病（包括β地中海貧血和鐮刀型細胞貧血症)

Chediak-Higashi syndrome

Chédiak-Higashi綜合症

Congenital amegakaryocytic thrombocytopenia

先天性純巨核細胞再生障礙性血小板減少症

Autosomal recessive chronic granulomatous disease

常染色體隱性遺傳慢性肉芽腫性疾病

Familial hemophagocytic lymphohistiocytosis

家族性噬血細胞性淋巴組織細胞增多症

X-linked lymphoproliferative syndrome type 1

X連鎖淋巴增殖綜合徵I型

WAS-related disorders (including Wiskott-Aldrich syndrome, X-linked congenital neutropenia and X-linked thrombocytopenia)

WAS相關疾病（包括威斯科特—奧爾德里奇綜合徵，X連鎖先天性嗜中性白血球減少症和X連鎖血小板減少症）

Ataxia-telangiectasia

共濟失調性毛細血管擴張症

Limb-girdle muscular dystrophy type 2, subtypes 2A, 2C, 2D and 2E

肢帶型肌營養不良2A，2C，2D和2E亞型

Congenital myasthenic syndrome

先天性肌無力綜合症

Leukoencephalopathy with vanishing white matter

白質消融性白質腦病

Congenital dystroglycanopathies, including Fukuyama congenital muscular dystrophy, muscle-eye-brain disease and Walker-Warburg syndrome

先天性肌營養不良蛋白聚醣病變(包括Fukuyana型先天性肌營養不良, 肌-眼-腦疾病，和Walker-Warburg綜合徵）

Nonaka myopathy

Nonaka肌病

L1 syndrome

L1綜合症

PLA2G6-associated neurodegeneration

PLA2G6相關神經退行性病變（包括嬰兒神經軸索營養不良）

POLG-related disorders

POLG相關疾病

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

常染色體隱性遺傳Charlevoix-Saguenay痙攣性共濟失調

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum

遺傳性運動感覺性神經病伴有胼胝體發育不全

Spinal muscular atrophy

脊髓性肌萎縮

Usher syndrome type 3A

Usher綜合症3A型

CYP1B1-related glaucoma

CYP1B1相關青光眼

GJB2-related nonsyndromic hearing loss type DFNB1

GJB2相關非綜合徵性聽力損失1型

X-linked Ocular albinism

X連鎖眼皮膚白化病

Usher syndrome type 1

Usher綜合症1型

Pendred syndrome and non-syndromic deafness type DFNB4

耳聾-甲狀腺腫綜合徵/常染色體隱性遺傳非綜合徵性聽力損失DFNB4型

Oculocutaneous albinism types 1A, 1B, 2 and 4

眼皮膚白化病1A，1B，2和4型

Usher syndrome type 2A

Usher綜合症2A型

Familial hyperinsulinism

家族性胰島功能亢進

Laron syndrome

Laron綜合症

X-linked adrenal hypoplasia congenital

X連鎖先天性腎上腺發育不全

Combined pituitary hormone deficiency types 1, 2 and 3

聯合性垂體激素缺乏症1，2和3型

Ehlers-Danlos syndrome, cardiac valvular form

心臟瓣膜型Ehlers-Danlos綜合症

Autosomal recessive congenital ichthyosis type 4

常染色體隱性遺傳先天性魚鱗病4型

Autosomal recessive epidermolysis bullosa dystrophica

營養不良性大皰性表皮鬆懈症

Ehlers-Danlos syndrome type VI

Ehlers-Danlos綜合症VI型

Autosomal recessive congenital ichthyosis type 1

常染色體隱性遺傳先天性魚鱗癬I型

Primary hyperoxaluria

原發性高草酸尿症

Autosomal recessive Alport syndrome

常染色體隱性遺傳Alport綜合症

Nephrotic syndrome types 1 and 2

腎病綜合徵1和2型

Polycystic kidney disease, autosomal recessive type

常染色體隱性遺傳多囊腎病

Cystic fibrosis

囊性纖維化

Alpha-1-antitrypsin deficiency

α1-抗胰蛋白酶缺乏症

ABCB11 deficiency, including progressive familial intrahepatic cholestasis type 2 and benign recurrent intrahepatic cholestasis type 2

ABCB11缺乏症（包括進行性家族性肝內膽汁淤積症2型和良性複發性肝內膽汁淤積2型）

ATP8B1 deficiency, including progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1

ATP8B1缺乏症（包括進行性家族性肝內膽汁淤積症1型和良性複發性肝內膽汁淤積1型）

SLC26A2-related disorders, including atelosteogenesis type II, achondrogenesis type IB, diastrophic dysplasia and multiple epiphyseal dysplasia-4

SLC26A2相關疾病（包括骨發育不全II型，軟骨成長不全IB型，骨畸形發育不良和多發性骨骺發育）

Shwachman-Diamond syndrome

Shwachman-Diamond綜合症

Joubert syndrome

Joubert綜合症

Nijmegen breakage syndrome

Nijmegen斷裂綜合症

Lowe syndrome

Lowe綜合症

Mitochondrial trifunctional protein deficiency

線粒體三功能蛋白缺乏症