MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Amino Acid Metabolism, Inborn Errors

(UMLS:C0002514)

Definition:: Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
UMLS ID:: C0002514
MeSH ID:: D000592

Classification 1:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.320.565.100

Classification 2:

Name:

Nutritional and Metabolic Diseases
MeSH Tree Number(s):: C18.452.648.100

Synonym(s)

Amino Acid Metabolism, Inborn Errors

AMINOACIDOPATHY

Amino Acid Metabolism Disorder

Amino Acid Metabolism Disorders

Amino acid disorder

Amino acid disorder, NOS

Amino acid metabolism disorder

Amino acid metabolism, Inborn errors of

Amino acidopathy

10.

Amino acidopathy, NOS

11.

Amino acids--Metabolism--Disorders

12.

Disorder of Amino Acid Metabolism

13.

Disorder of amino acid metabolism

14.

Disorder of amino acid metabolism, NOS

15.

Disorder of amino acid transport and metabolism

16.

Disorder of amino-acid metabolism, unspecified

17.

Disorder;amino-acid metabolic

18.

Disorders of amino acid transport and metabolism

19.

Hyperaminoaciduria

20.

Hyperaminoaciduria, NOS

Associated Drug(s)

	Name	Number of Reports	Reference(s)	Data Source
1	aminoacetone		11559049	CTD

Similar ADE(s)

	Name	Semantic Similarity
1	Carbohydrate Metabolism, Inborn Errors	46.7%
2	Metal Metabolism, Inborn Errors	46.7%
3	Progeria	46.7%
4	Lysosomal Storage Diseases	46.7%
5	Peroxisomal Disorders	46.7%
6	Smith-Lemli-Opitz Syndrome	39.6%
7	Galactosemias	37.7%
8	Brain Diseases, Metabolic, Inborn	37.6%
9	Glycogen storage disease type II	36%
10	Leigh Disease	35.3%
11	Glycogen Storage Disease	34.4%
12	Hypophosphatasia	34.4%
13	Dihydropyrimidine Dehydrogenase Deficiency	34.4%
14	Cystinosis	34.4%
15	Hyperphosphaturia	33.5%
16	Hypolipoproteinemias	33.3%
17	Cytochrome-c Oxidase Deficiency	33.3%
18	Mucopolysaccharidosis III	32.3%
19	Hyperlipidemia, Familial Combined	32.2%
20	Hyperlipoproteinemia Type III	31.7%
21	Gaucher Disease	31.5%
22	Pseudohypoparathyroidism	31.1%
23	Menkes Kinky Hair Syndrome	30%
24	Hyperlipoproteinemia Type IV	29.9%
25	Hyperlipoproteinemia Type V	29.9%
26	Lactose Intolerance	29.5%
27	Tay-Sachs Disease	28.6%
28	Glycogen Storage Disease Type I	28.5%
29	Glycogen Storage Disease Type V	28.5%
30	Mucopolysaccharidosis II	28.3%
31	Fabry Disease	27.6%
32	Adrenoleukodystrophy	27.5%
33	Hypoalphalipoproteinemias	27.5%
34	Niemann-Pick Disease, Type C	27.1%
35	Hepatolenticular Degeneration	26.5%
36	Zellweger Syndrome	26.5%
37	Refsum Disease	26.2%
38	Neuronal Ceroid-Lipofuscinoses	26.2%
39	Werner Syndrome	25.4%
40	Amyloid Neuropathies, Familial	25%
41	Renal tubular acidosis	23.7%
42	Familial Periodic Paralysis	23.3%
43	Familial Hypophosphatemic Rickets	23.3%
44	Renal Aminoacidurias	22.8%
45	Fanconi Syndrome	22.8%
46	Pseudohypoaldosteronism	22.8%
47	Liddle Syndrome	22.8%
48	Ichthyosis, X-Linked	21.8%
49	Antley-Bixler Syndrome Phenotype	21%
50	Wasting Syndrome	20.7%
51	Urea Cycle Disorders, Inborn	20.7%
52	Tyrosinemias	20.7%
53	Acid-Base Imbalance	20.5%
54	Calcium Metabolism Disorders	20.5%
55	Iron Metabolism Disorders	20.5%
56	Phosphorus Metabolism Disorders	20.5%
57	Water-Electrolyte Imbalance	20.5%
58	Lipid Metabolism Disorders	20.5%
59	Mitochondrial Diseases	20.5%
60	Glucose Metabolism Disorders	20.5%
61	Gout	20%
62	Hypercalcemia	20%
63	Hypocalcemia	20%
64	Milk-Alkali Syndrome	20%
65	Carbamoyl-Phosphate Synthase I Deficiency Disease	19.5%
66	Hypokalemic periodic paralysis	19%
67	Cystinuria	18.8%
68	Sjogren-Larsson Syndrome	18.7%
69	Homocystinuria	18.5%
70	Glycosuria, Renal	18.3%
71	Canavan Disease	17.7%
72	Alexander Disease	17.7%
73	MELAS Syndrome	17.2%
74	Cockayne Syndrome	16.6%
75	Arthritis, Gouty	16.3%
76	Neoplastic Syndromes, Hereditary	16.1%
77	Lipodystrophy	16%
78	Osteopenia	15.5%
79	Brain Diseases, Metabolic	15.3%
80	Multiple Epiphyseal Dysplasia	15.3%
81	Osteochondrodysplasias	15.3%
82	Pelger-Huet Anomaly	15.3%
83	Myasthenic Syndromes, Congenital	15.3%
84	CHARGE Syndrome	14.9%
85	Rickets	14.4%
86	Cystic Fibrosis	14%
87	Aicardi's syndrome	13.9%
88	Fragile X Syndrome	13.9%
89	Porphyrias, Hepatic	13.5%
90	Congenital Hyperinsulinism	13.5%
91	Acidosis	13.3%
92	Alkalosis	13.3%
93	Amyloidosis	13.3%
94	Beckwith-Wiedemann Syndrome	13.3%
95	Bloom Syndrome	13.3%
96	Calcinosis	13.3%
97	Hyperglycemia	13.3%
98	Hyperinsulinism	13.3%
99	Hyperkalemia	13.3%
100	Hypernatremia	13.3%
101	Hypoglycemia	13.3%
102	Hypokalemia	13.3%
103	Hyponatremia	13.3%
104	Familial Mediterranean Fever	13.3%
105	Xanthomatosis	13.3%
106	Hypophosphatemia	13.3%
107	Metabolic acidosis	13.3%
108	Dyslipidemias	13.3%
109	Iron Overload	13.3%
110	Xanthoma	13.3%
111	Wolf-Hirschhorn Syndrome	13.3%
112	Anemia, Sickle Cell	13.2%
113	Thalassemia	13.2%
114	Muscular Dystrophy, Duchenne	13.2%
115	Fanconi Anemia	13.1%
116	Dwarfism	12.7%
117	Nail-Patella Syndrome	12.5%
118	Muscular Dystrophy	12.1%
119	Osteogenesis Imperfecta	12.1%
120	Deformity	11.9%
121	Nutrition Disorders	11.9%
122	Rett Syndrome	11.7%
123	Smith-Magenis syndrome	11.2%
124	Ataxia Telangiectasia	11.2%
125	Cri-du-Chat Syndrome	11%
126	Down Syndrome	11%
127	Trisomy 21	11%
128	Optic Atrophy, Hereditary, Leber	10.9%
129	Osteomalacia	10.9%
130	Prader-Willi Syndrome	10.8%
131	Diabetic Ketoacidosis	10.8%
132	Alstrom Syndrome	10.7%
133	Diabetes Mellitus	10.5%
134	Nesidioblastosis	10.4%
135	Autoimmune Lymphoproliferative Syndrome	10.2%
136	Dehydration	10.2%
137	Lipomatosis	10.2%
138	Water Intoxication	10.2%
139	Achlorhydria	10%
140	Osteoporosis	10%
141	Bone Demineralization, Pathologic	10%
142	Post-Traumatic Osteoporosis	10%
143	Angioedemas, Hereditary	9.9%
144	Celiac Disease	9.9%
145	Sprue, Tropical	9.9%
146	Steatorrhea	9.9%
147	Sprue	9.9%
148	Wiskott-Aldrich Syndrome	9.9%
149	Acidosis, Lactic	9.9%
150	Calciphylaxis	9.9%
151	Hemosiderosis	9.9%
152	Ketosis	9.9%
153	Ketonuria	9.9%
154	Ketoacidosis	9.9%
155	Ketonemia	9.9%
156	Vascular calcification	9.9%
157	Mitochondrial Encephalomyopathies	9.9%
158	Variegate Porphyria	9.8%
159	Acute intermittent porphyria	9.8%
160	Porphyria Cutanea Tarda	9.8%
161	Friedreich Ataxia	9.8%
162	Sickle Cell Trait	9.7%
163	Holoprosencephaly	9.6%
164	Ectodermal Dysplasia	9.5%
165	Aplasia Cutis Congenita	9.5%
166	Xeroderma Pigmentosum	9.4%
167	Marfan Syndrome	9.4%
168	Kartagener Syndrome	9.3%
169	Fetal Diseases	8.9%
170	Primary Ciliary Dyskinesia	8.9%
171	Albinism	8.9%
172	Myotonic Dystrophy	8.8%
173	Polycystic Kidney Diseases	8.8%
174	Williams Syndrome	8.8%
175	Kallmann Syndrome	8.4%
176	Rubinstein-Taybi Syndrome	8.4%
177	Hypercholesterolemia	8.2%
178	Hyperlipoproteinemias	8.2%
179	Hypertriglyceridemia	8.2%
180	Tuberous Sclerosis	8.2%
181	Cutis Laxa	8.1%
182	Mitochondrial Myopathies	8.1%
183	Retinitis Pigmentosa	8.1%
184	Myelinolysis, Central Pontine	8.1%
185	Pigmentary retinopathy	8.1%
186	Porokeratosis	8%
187	Keratoderma, Palmoplantar	8%
188	Glycosuria	7.9%
189	Chronic granulomatous disease	7.9%
190	Reye Syndrome	7.9%
191	Hepatic Encephalopathy	7.9%
192	Welander Distal Myopathy	7.9%
193	Retinal Dysplasia	7.8%
194	Aniridia	7.8%
195	Hyperhomocysteinemia	7.8%
196	Epidermolysis Bullosa	7.6%
197	HIV Wasting Syndrome	7.5%
198	Acute Chest Syndrome	7.5%
199	Acidosis, Respiratory	7.4%
200	Adiposis Dolorosa	7.4%
201	Alkalosis, Respiratory	7.4%
202	Insulin Resistance	7.4%
203	Osteoporosis, Postmenopausal	7.4%
204	HIV-Associated Lipodystrophy Syndrome	7.3%
205	Renal Osteodystrophy	7.3%
206	Renal rickets	7.3%
207	Abdominal Cramps	6.8%
208	Abnormalities, Drug-Induced	6.8%
209	Amniotic Band Syndrome	6.8%
210	Asphyxia Neonatorum	6.8%
211	Child Nutrition Disorders	6.8%
212	Duane Retraction Syndrome	6.8%
213	Hypervitaminosis A	6.8%
214	Infant Nutrition Disorders	6.8%
215	Infant, Premature, Diseases	6.8%
216	Situs Inversus	6.8%
217	Malnutrition	6.8%
218	Infantile Colic	6.8%
219	Kernicterus	6.7%
220	Peutz-Jeghers Syndrome	6.6%
221	Wernicke Encephalopathy	6.6%
222	Myotonia Congenita	6.6%
223	Thrombasthenia	6.6%
224	Antithrombin III Deficiency	6.6%
225	Necrobiosis Lipoidica Diabeticorum	6.6%
226	Protein C Deficiency	6.6%
227	Afibrinogenemia	6.6%
228	Dystonia Musculorum Deformans	6.6%
229	Factor VII Deficiency	6.6%
230	Factor X Deficiency	6.6%
231	Factor XII Deficiency	6.6%
232	Hemophilia A	6.6%
233	Activated Protein C Resistance	6.6%
234	Factor II deficiency	6.6%
235	Factor VIII Deficiency	6.6%
236	Factor V deficiency	6.6%
237	Factor XI Deficiency	6.6%
238	Hypoprothrombinemias	6.6%
239	Lafora Disease	6.5%
240	Unverricht-Lundborg Syndrome	6.5%
241	Anemia, Diamond-Blackfan	6.5%
242	Polycystic Kidney, Autosomal Dominant	6.5%
243	Classical Lissencephalies and Subcortical Band Heterotopias	6.3%
244	Gestational Diabetes	6.1%
245	Latent Autoimmune Diabetes in Adults	6.1%
246	Diabetes Mellitus, Experimental	6%
247	Pseudoxanthoma Elasticum	5.9%
248	Nephrocalcinosis	5.9%
249	Tetany	5.9%
250	Meconium Aspiration Syndrome	5.9%
251	Multiple Endocrine Neoplasia	5.9%
252	Papillon-Lefevre Disease	5.9%
253	Hyperkeratosis, Epidermolytic	5.9%
254	Cerebral Amyloid Angiopathy	5.8%
255	Congenital Hypothyroidism	5.7%
256	Dermatitis, Atopic	5.7%
257	Xeroderma	5.6%
258	Mobius Syndrome	5.6%
259	Charcot-Marie-Tooth Disease	5.6%
260	Eye Abnormalities	5.4%
261	Cardiovascular Abnormalities	5.4%
262	Kearns-Sayre syndrome	5.3%
263	Skin Abnormalities	5.2%
264	Lymphatic Abnormalities	5.2%
265	Congenital Microtia	5.2%
266	Anemia, Neonatal	5.1%
267	Persistent Fetal Circulation Syndrome	5.1%
268	Congenital diaphragmatic hernia	5%
269	Umbilical hernia	5%
270	Behcet Syndrome	5%
271	Primary amyloidosis	5%
272	Basal Cell Nevus Syndrome	4.8%
273	Anencephaly	4.6%
274	Klinefelter Syndrome	4.5%
275	Deficiency Diseases	4.4%
276	Prune Belly Syndrome	4.4%
277	Starvation	4.4%
278	Twins, Conjoined	4.4%
279	Refeeding Syndrome	4.4%
280	Waardenburg Syndrome	4.4%
281	Huntington Disease	4.4%
282	Urogenital Abnormalities	4.3%
283	Amyotrophic Lateral Sclerosis	4.3%
284	Multiple Endocrine Neoplasia Type 1	4.2%
285	Hydrops Fetalis	4.2%
286	Neonatal Abstinence Syndrome	4.2%
287	Fetal Growth Retardation	4.1%
288	Frontotemporal dementia	4.1%
289	Fetal Hypoxia	4%
290	Congenital nystagmus	4%
291	Fetal Alcohol Spectrum Disorders	4%
292	Toxoplasmosis, Congenital	4%
293	Syphilis, Congenital	4%
294	Nephroblastoma	3.9%
295	Maxillofacial Abnormalities	3.9%
296	Dural Arteriovenous Fistula	3.9%
297	Turner Syndrome	3.9%
298	Dextrocardia	3.9%
299	CREST Syndrome	3.7%
300	Adenomatous Polyposis Coli	3.5%
301	Anophthalmos	3.4%
302	Anus, Imperforate	3.4%
303	Hydranencephaly	3.4%
304	Microphthalmos	3.4%
305	Neural Tube Defects	3.4%
306	Paralysis, Obstetric	3.4%
307	Retinopathy of Prematurity	3.4%
308	Tethered Cord Syndrome	3.4%
309	Iniencephaly	3.4%
310	Craniorachischisis	3.4%
311	Limb Deformities, Congenital	3.4%
312	Exencephaly	3.4%
313	Septo-Optic Dysplasia	3.4%
314	Craniofacial Abnormalities	3.4%
315	Cortical Dysplasia	3.4%
316	Malformations of Cortical Development	3.4%
317	Anorectal Malformations	3.4%
318	Chorioamnionitis	3.4%
319	Bronchopulmonary Dysplasia	3.3%
320	Kwashiorkor	3.3%
321	Magnesium Deficiency	3.3%
322	Potassium Deficiency	3.3%
323	Protein Deficiency	3.3%
324	Avitaminosis	3.3%
325	Microcephaly	3%
326	Macrocephaly	3%
327	Scimitar Syndrome	3%
328	Abnormalities, Radiation-Induced	2.9%
329	Craniosynostosis	2.8%
330	Syndactyly	2.8%
331	Brachycephaly	2.8%
332	Blepharophimosis	2.7%
333	Laryngostenosis	2.7%
334	Mouth Abnormalities	2.7%
335	Respiratory Distress Syndrome, Newborn	2.7%
336	Ascorbic Acid Deficiency	2.7%
337	Vitamin A Deficiency	2.7%
338	Vitamin D Deficiency	2.7%
339	Vitamin E Deficiency	2.7%
340	Marasmus	2.7%
341	Esophageal Atresia	2.7%
342	Intestinal Atresia	2.7%
343	Horseshoe Kidney	2.7%
344	Pectus excavatum	2.7%
345	Porencephaly	2.7%
346	Klippel-Feil Syndrome	2.7%
347	Gastroschisis	2.7%
348	Synostosis	2.7%
349	Acrocephalosyndactylia	2.7%
350	Acrodermatitis	2.7%
351	Lymphangiectasis, Intestinal	2.7%
352	Gianotti-Crosti Syndrome	2.7%
353	Denys-Drash Syndrome	2.6%
354	Noonan Syndrome	2.5%
355	Amelia	2.5%
356	Arachnodactyly	2.5%
357	Ectopia Cordis	2.5%
358	Ectromelia	2.5%
359	Hemimelia	2.5%
360	Meningomyelocele	2.5%
361	Phocomelia	2.5%
362	Sirenomelia	2.5%
363	Spina Bifida	2.5%
364	Polydactyly	2.5%
365	Brachydactyly	2.5%
366	Plagiocephaly	2.5%
367	Lower Extremity Deformities, Congenital	2.5%
368	Upper Extremity Deformities, Congenital	2.5%
369	Single umbilical artery	2.5%
370	Ophthalmia Neonatorum	2.5%
371	Folic Acid Deficiency	2.5%
372	Pellagra	2.5%
373	Thiamine Deficiency	2.5%
374	Vitamin B 12 Deficiency	2.5%
375	Vitamin B 6 Deficiency	2.5%
376	Pyridoxine Deficiency	2.5%
377	Beriberi	2.3%
378	Poland Syndrome	2.3%
379	Cleft Palate	2.3%
380	Arthrogryposis	2.3%
381	Choanal Atresia	2.3%
382	Tracheobronchomegaly	2.3%
383	Laryngocele	2.3%
384	Jaw Abnormalities	2.3%
385	Choledochal Cyst	2.3%
386	Hermaphroditism	2.3%
387	Disorders of Sex Development	2.3%
388	Cryptorchidism	2.2%
389	Hypospadias	2.2%
390	Central Nervous System Cysts	2.2%
391	Dandy-Walker Syndrome	2.2%
392	Leukomalacia, Periventricular	2.2%
393	POEMS Syndrome	2.2%
394	Obesity	2.2%
395	Dermal Sinus	2%
396	Spina Bifida Cystica	2%
397	Spina Bifida Occulta	2%
398	Lissencephaly	2%
399	Polymicrogyria	2%
400	Pachygyria	2%
401	Schizencephaly	2%
402	Periventricular Nodular Heterotopia	2%
403	Aortic coarctation	2%
404	Cor Triatriatum	2%
405	Coronary Vessel Anomalies	2%
406	Dental Enamel Hypoplasia	2%
407	Patent ductus arteriosus	2%
408	Ebstein Anomaly	2%
409	Heart Septal Defects	2%
410	Hyaline Membrane Disease	2%
411	Hypodontia	2%
412	Macrostomia	2%
413	Meningocele	2%
414	Microstomia	2%
415	Tetralogy of Fallot	2%
416	Transposition of Great Vessels	2%
417	Hypoplastic Left Heart Syndrome	2%
418	May-Thurner Syndrome	2%
419	Encephalocele	2%
420	Craniofacial Dysostosis	2%
421	Wolff-Parkinson-White Syndrome	2%
422	Laryngomalacia	2%
423	Pectus carinatum	1.9%
424	Obesity, Abdominal	1.9%
425	Micrognathism	1.9%
426	Pierre Robin Syndrome	1.9%
427	Bladder Exstrophy	1.9%
428	Epispadias	1.9%
429	Multicystic Dysplastic Kidney	1.9%
430	Retrognathia	1.7%
431	Anemia, Pernicious	1.7%
432	Long QT Syndrome	1.7%
433	Platybasia	1.7%
434	Tricuspid Atresia	1.7%
435	Arrhythmogenic Right Ventricular Dysplasia	1.7%
436	Vitamin K Deficiency	1.7%
437	Gonadal Dysgenesis	1.6%
438	Bronchomalacia	1.6%
439	Adrenogenital Syndrome	1.6%
440	Tracheomalacia	1.6%
441	Ovotesticular Disorders of Sex Development	1.6%
442	Aortopulmonary Septal Defect	1.6%
443	Double Outlet Right Ventricle	1.6%
444	Endocardial Cushion Defects	1.6%
445	Myocardial bridging	1.6%
446	Aorticopulmonary Septal Defect	1.6%
447	Hyperandrogenism	1.6%
448	Pediatric Obesity	1.6%
449	Prognathism	1.6%
450	Scurvy	1.5%
451	Truncus Arteriosus, Persistent	1.5%
452	Goldenhar Syndrome	1.5%
453	Mandibulofacial Dysostosis	1.4%
454	Romano-Ward Syndrome	1.4%
455	Talipes	1.2%
456	Congenital clubfoot	1.1%
457	Vertical Talus	1.1%
458	Arteriovenous fistula	1%
459	Subacute Combined Degeneration	1%

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