MetaADEDB: ADE

MetaADEDB 2.0 @ LMMD

Propionic acidemia

(UMLS:C0268579)

Definition:: Autosomal recessive metabolic disorder caused by mutations in PROPIONYL-COA CARBOXYLASE genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, HYPERGLYCEMIA, lethargy, vomiting, HYPOTONIA; and HEPATOMEGALY. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.
UMLS ID:: C0268579
MeSH ID:: D056693

Classification 1:

Name:

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):: C16.320.565.100.823

Classification 2:

Name:

Nutritional and Metabolic Diseases
MeSH Tree Number(s):: C18.452.648.100.823

Synonym(s)

Propionic acidemia

Hyperglycinaemia with ketosis and leucopenia

Hyperglycinemia with ketosis and leucopenia

Hyperglycinemia with ketosis and leukopenia

Hyperglycinemia, ketotic form

Ketotic glycinaemia

Ketotic glycinemia

Ketotic hyperglycinaemia

Ketotic hyperglycinemia

10.

PCC - Propionyl-CoA carboxylase deficiency

11.

PROPIONIC ACIDEMIA

12.

Propionic Acidemia

13.

Propionic acidaemia

14.

Propionic acidemia, NOS

15.

Propionicacidemia

16.

Propionyl-CoA carboxylase deficiency

17.

acidemia; propionic

18.

disorder; propionic acidemia

Associated Drug(s)

	Name	Reference(s)	Data Source
1	2,3-pentanediol	3652445	CTD
2	2-methyl-2,3-butanediol	3652445	CTD
3	Sodium Benzoate	2178070	CTD
4	sodium carbonate	2178070	CTD

Similar ADE(s)

	Name	Semantic Similarity
1	Alkaptonuria	48.4%
2	Urea Cycle Disorders, Inborn	37.8%
3	Tyrosinemias	37.8%
4	Hyperhomocysteinemia	37.8%
5	Carbohydrate Metabolism, Inborn Errors	34.4%
6	Metal Metabolism, Inborn Errors	34.4%
7	Progeria	34.4%
8	Lysosomal Storage Diseases	34.4%
9	Peroxisomal Disorders	34.4%
10	Albinism	28.6%
11	Homocystinuria	28.5%
12	Carbamoyl-Phosphate Synthase I Deficiency Disease	28.3%
13	Brain Diseases, Metabolic, Inborn	27.9%
14	Smith-Lemli-Opitz Syndrome	26.3%
15	Galactosemias	24.9%
16	Cytochrome-c Oxidase Deficiency	24.6%
17	Leigh Disease	22.9%
18	Glycogen Storage Disease	22.6%
19	Hypophosphatasia	22.6%
20	Dihydropyrimidine Dehydrogenase Deficiency	22.6%
21	Cystinosis	22.6%
22	Hyperphosphaturia	22.2%
23	Hypolipoproteinemias	21.9%
24	Pseudohypoparathyroidism	21.5%
25	Glycogen storage disease type II	21.5%
26	Hyperlipidemia, Familial Combined	20.9%
27	Hyperlipoproteinemia Type III	20.4%
28	Lactose Intolerance	20%
29	Werner Syndrome	20%
30	Menkes Kinky Hair Syndrome	19.9%
31	Mucopolysaccharidosis III	19.2%
32	Hyperlipoproteinemia Type IV	18.9%
33	Hyperlipoproteinemia Type V	18.9%
34	Hepatolenticular Degeneration	17.9%
35	Adrenoleukodystrophy	17.8%
36	Zellweger Syndrome	17.7%
37	Gaucher Disease	17.5%
38	Refsum Disease	17.4%
39	Mucopolysaccharidosis II	17.3%
40	Wasting Syndrome	16.9%
41	Glycogen Storage Disease Type I	16.8%
42	Glycogen Storage Disease Type V	16.8%
43	Acid-Base Imbalance	16.7%
44	Calcium Metabolism Disorders	16.7%
45	Iron Metabolism Disorders	16.7%
46	Neuronal Ceroid-Lipofuscinoses	16.7%
47	Phosphorus Metabolism Disorders	16.7%
48	Water-Electrolyte Imbalance	16.7%
49	Lipid Metabolism Disorders	16.7%
50	Mitochondrial Diseases	16.7%
51	Glucose Metabolism Disorders	16.7%
52	Amyloid Neuropathies, Familial	16.5%
53	Hypoalphalipoproteinemias	16.3%
54	Fabry Disease	15.8%
55	Renal tubular acidosis	15.6%
56	Familial Periodic Paralysis	15.4%
57	Ichthyosis, X-Linked	15.1%
58	Renal Aminoacidurias	15%
59	Fanconi Syndrome	15%
60	Pseudohypoaldosteronism	15%
61	Liddle Syndrome	15%
62	Hypercalcemia	14.8%
63	Hypocalcemia	14.8%
64	Milk-Alkali Syndrome	14.8%
65	Tay-Sachs Disease	14.6%
66	Niemann-Pick Disease, Type C	14.3%
67	Antley-Bixler Syndrome Phenotype	13.9%
68	Familial Hypophosphatemic Rickets	13.9%
69	Gout	13.2%
70	Neoplastic Syndromes, Hereditary	13.2%
71	Osteopenia	12.7%
72	Brain Diseases, Metabolic	12.5%
73	Multiple Epiphyseal Dysplasia	12.5%
74	Osteochondrodysplasias	12.5%
75	Pelger-Huet Anomaly	12.5%
76	Myasthenic Syndromes, Congenital	12.5%
77	Cockayne Syndrome	12.3%
78	Glycosuria, Renal	12.1%
79	Sjogren-Larsson Syndrome	12.1%
80	CHARGE Syndrome	12%
81	Lipodystrophy	11.8%
82	Cystic Fibrosis	11.5%
83	Hypokalemic periodic paralysis	11.3%
84	MELAS Syndrome	11.2%
85	Cystinuria	11.2%
86	Canavan Disease	11.1%
87	Alexander Disease	11.1%
88	Rickets	10.5%
89	Deformity	10.5%
90	Nutrition Disorders	10.5%
91	Aicardi's syndrome	10.5%
92	Dwarfism	10.4%
93	Nail-Patella Syndrome	10.1%
94	Porphyrias, Hepatic	10%
95	Muscular Dystrophy	9.9%
96	Osteogenesis Imperfecta	9.9%
97	Beckwith-Wiedemann Syndrome	9.9%
98	Wolf-Hirschhorn Syndrome	9.9%
99	Bloom Syndrome	9.8%
100	Anemia, Sickle Cell	9.8%
101	Thalassemia	9.8%
102	Acidosis	9.8%
103	Alkalosis	9.8%
104	Amyloidosis	9.8%
105	Calcinosis	9.8%
106	Hyperglycemia	9.8%
107	Hyperinsulinism	9.8%
108	Hyperkalemia	9.8%
109	Hypernatremia	9.8%
110	Hypoglycemia	9.8%
111	Hypokalemia	9.8%
112	Hyponatremia	9.8%
113	Familial Mediterranean Fever	9.8%
114	Xanthomatosis	9.8%
115	Hypophosphatemia	9.8%
116	Metabolic acidosis	9.8%
117	Dyslipidemias	9.8%
118	Iron Overload	9.8%
119	Xanthoma	9.8%
120	Muscular Dystrophy, Duchenne	9.8%
121	Fanconi Anemia	9.7%
122	Arthritis, Gouty	9.7%
123	Congenital Hyperinsulinism	9.4%
124	Fragile X Syndrome	9.2%
125	Ataxia Telangiectasia	8.9%
126	Autoimmune Lymphoproliferative Syndrome	8.4%
127	Smith-Magenis syndrome	8.3%
128	Cri-du-Chat Syndrome	8.2%
129	Down Syndrome	8.2%
130	Angioedemas, Hereditary	8.2%
131	Trisomy 21	8.2%
132	Prader-Willi Syndrome	7.9%
133	Fetal Diseases	7.9%
134	Diabetes Mellitus	7.8%
135	Rett Syndrome	7.7%
136	Optic Atrophy, Hereditary, Leber	7.6%
137	Dehydration	7.5%
138	Lipomatosis	7.5%
139	Water Intoxication	7.5%
140	Marfan Syndrome	7.4%
141	Alstrom Syndrome	7.4%
142	Achlorhydria	7.4%
143	Osteoporosis	7.4%
144	Bone Demineralization, Pathologic	7.4%
145	Post-Traumatic Osteoporosis	7.4%
146	Wiskott-Aldrich Syndrome	7.4%
147	Celiac Disease	7.3%
148	Sprue, Tropical	7.3%
149	Steatorrhea	7.3%
150	Sprue	7.3%
151	Ectodermal Dysplasia	7.1%
152	Aplasia Cutis Congenita	7.1%
153	Osteomalacia	7%
154	Xeroderma Pigmentosum	7%
155	Mitochondrial Encephalomyopathies	7%
156	Holoprosencephaly	6.9%
157	Friedreich Ataxia	6.9%
158	Kartagener Syndrome	6.9%
159	Diabetic Ketoacidosis	6.8%
160	Kallmann Syndrome	6.7%
161	Myotonic Dystrophy	6.5%
162	Polycystic Kidney Diseases	6.5%
163	Williams Syndrome	6.5%
164	Nesidioblastosis	6.5%
165	Variegate Porphyria	6.5%
166	Acute intermittent porphyria	6.5%
167	Porphyria Cutanea Tarda	6.5%
168	Acidosis, Lactic	6.5%
169	Calciphylaxis	6.5%
170	Hemosiderosis	6.5%
171	Ketosis	6.5%
172	Ketonuria	6.5%
173	Ketoacidosis	6.5%
174	Ketonemia	6.5%
175	Vascular calcification	6.5%
176	Primary Ciliary Dyskinesia	6.4%
177	Sickle Cell Trait	6.4%
178	Rubinstein-Taybi Syndrome	6.2%
179	Cutis Laxa	6%
180	Mitochondrial Myopathies	6%
181	Tuberous Sclerosis	6%
182	Retinitis Pigmentosa	6%
183	Myelinolysis, Central Pontine	6%
184	Pigmentary retinopathy	6%
185	Porokeratosis	5.9%
186	Keratoderma, Palmoplantar	5.9%
187	Glycosuria	5.9%
188	Chronic granulomatous disease	5.9%
189	Reye Syndrome	5.9%
190	Hepatic Encephalopathy	5.8%
191	Retinal Dysplasia	5.8%
192	Welander Distal Myopathy	5.8%
193	Aniridia	5.8%
194	Epidermolysis Bullosa	5.7%
195	HIV Wasting Syndrome	5.6%
196	Abdominal Cramps	5.6%
197	Abnormalities, Drug-Induced	5.6%
198	Amniotic Band Syndrome	5.6%
199	Asphyxia Neonatorum	5.6%
200	Child Nutrition Disorders	5.6%
201	Hypervitaminosis A	5.6%
202	Infant Nutrition Disorders	5.6%
203	Infant, Premature, Diseases	5.6%
204	Situs Inversus	5.6%
205	Malnutrition	5.6%
206	Infantile Colic	5.6%
207	Duane Retraction Syndrome	5.1%
208	Kernicterus	5%
209	Acute Chest Syndrome	4.9%
210	Peutz-Jeghers Syndrome	4.9%
211	Myotonia Congenita	4.9%
212	Thrombasthenia	4.9%
213	Antithrombin III Deficiency	4.9%
214	Necrobiosis Lipoidica Diabeticorum	4.9%
215	Protein C Deficiency	4.9%
216	Afibrinogenemia	4.9%
217	Dystonia Musculorum Deformans	4.9%
218	Factor VII Deficiency	4.9%
219	Factor X Deficiency	4.9%
220	Factor XII Deficiency	4.9%
221	Hemophilia A	4.9%
222	Activated Protein C Resistance	4.9%
223	Factor II deficiency	4.9%
224	Factor VIII Deficiency	4.9%
225	Factor V deficiency	4.9%
226	Factor XI Deficiency	4.9%
227	Hypoprothrombinemias	4.9%
228	Acidosis, Respiratory	4.9%
229	Adiposis Dolorosa	4.9%
230	Alkalosis, Respiratory	4.9%
231	Meconium Aspiration Syndrome	4.9%
232	HIV-Associated Lipodystrophy Syndrome	4.8%
233	Lafora Disease	4.8%
234	Unverricht-Lundborg Syndrome	4.8%
235	Insulin Resistance	4.8%
236	Osteoporosis, Postmenopausal	4.8%
237	Anemia, Diamond-Blackfan	4.8%
238	Hypercholesterolemia	4.8%
239	Hyperlipoproteinemias	4.8%
240	Hypertriglyceridemia	4.8%
241	Wernicke Encephalopathy	4.7%
242	Renal Osteodystrophy	4.7%
243	Renal rickets	4.7%
244	Xeroderma	4.4%
245	Mobius Syndrome	4.4%
246	Pseudoxanthoma Elasticum	4.4%
247	Eye Abnormalities	4.4%
248	Cardiovascular Abnormalities	4.4%
249	Multiple Endocrine Neoplasia	4.4%
250	Polycystic Kidney, Autosomal Dominant	4.3%
251	Congenital Hypothyroidism	4.3%
252	Dermatitis, Atopic	4.2%
253	Skin Abnormalities	4.2%
254	Lymphatic Abnormalities	4.2%
255	Congenital Microtia	4.2%
256	Anemia, Neonatal	4.2%
257	Persistent Fetal Circulation Syndrome	4.2%
258	Congenital diaphragmatic hernia	4.1%
259	Umbilical hernia	4.1%
260	Gestational Diabetes	4%
261	Latent Autoimmune Diabetes in Adults	4%
262	Classical Lissencephalies and Subcortical Band Heterotopias	4%
263	Diabetes Mellitus, Experimental	4%
264	Nephrocalcinosis	3.9%
265	Tetany	3.9%
266	Papillon-Lefevre Disease	3.9%
267	Cerebral Amyloid Angiopathy	3.8%
268	Hyperkeratosis, Epidermolytic	3.8%
269	Behcet Syndrome	3.7%
270	Charcot-Marie-Tooth Disease	3.7%
271	Kearns-Sayre syndrome	3.6%
272	Basal Cell Nevus Syndrome	3.6%
273	Urogenital Abnormalities	3.5%
274	Neonatal Abstinence Syndrome	3.4%
275	Fetal Growth Retardation	3.3%
276	Fetal Hypoxia	3.3%
277	Congenital nystagmus	3.3%
278	Fetal Alcohol Spectrum Disorders	3.3%
279	Toxoplasmosis, Congenital	3.3%
280	Primary amyloidosis	3.3%
281	Anencephaly	3.3%
282	Syphilis, Congenital	3.3%
283	Huntington Disease	3.3%
284	Deficiency Diseases	3.3%
285	Prune Belly Syndrome	3.3%
286	Starvation	3.3%
287	Twins, Conjoined	3.3%
288	Refeeding Syndrome	3.3%
289	Waardenburg Syndrome	3.3%
290	Nephroblastoma	2.9%
291	Amyotrophic Lateral Sclerosis	2.8%
292	Multiple Endocrine Neoplasia Type 1	2.8%
293	Chorioamnionitis	2.8%
294	Maxillofacial Abnormalities	2.8%
295	Dural Arteriovenous Fistula	2.8%
296	Hydrops Fetalis	2.7%
297	Dextrocardia	2.7%
298	Klinefelter Syndrome	2.7%
299	Adenomatous Polyposis Coli	2.6%
300	Anophthalmos	2.5%
301	Anus, Imperforate	2.5%
302	Hydranencephaly	2.5%
303	Microphthalmos	2.5%
304	Neural Tube Defects	2.5%
305	Paralysis, Obstetric	2.5%
306	Retinopathy of Prematurity	2.5%
307	Tethered Cord Syndrome	2.5%
308	Iniencephaly	2.5%
309	Craniorachischisis	2.5%
310	Limb Deformities, Congenital	2.5%
311	Exencephaly	2.5%
312	Septo-Optic Dysplasia	2.5%
313	Craniofacial Abnormalities	2.5%
314	Cortical Dysplasia	2.5%
315	Malformations of Cortical Development	2.5%
316	Anorectal Malformations	2.5%
317	Bronchopulmonary Dysplasia	2.4%
318	CREST Syndrome	2.4%
319	Frontotemporal dementia	2.4%
320	Turner Syndrome	2.4%
321	Abnormalities, Radiation-Induced	2.4%
322	Kwashiorkor	2.2%
323	Magnesium Deficiency	2.2%
324	Potassium Deficiency	2.2%
325	Protein Deficiency	2.2%
326	Avitaminosis	2.2%
327	Scimitar Syndrome	2.1%
328	Ophthalmia Neonatorum	2%
329	Blepharophimosis	2%
330	Laryngostenosis	2%
331	Mouth Abnormalities	2%
332	Respiratory Distress Syndrome, Newborn	2%
333	Esophageal Atresia	2%
334	Intestinal Atresia	2%
335	Horseshoe Kidney	2%
336	Pectus excavatum	2%
337	Klippel-Feil Syndrome	2%
338	Gastroschisis	2%
339	Synostosis	2%
340	Acrodermatitis	2%
341	Lymphangiectasis, Intestinal	2%
342	Gianotti-Crosti Syndrome	2%
343	Microcephaly	1.9%
344	Macrocephaly	1.9%
345	Craniosynostosis	1.9%
346	Syndactyly	1.9%
347	Brachycephaly	1.9%
348	Denys-Drash Syndrome	1.7%
349	Arthrogryposis	1.7%
350	Choanal Atresia	1.7%
351	Tracheobronchomegaly	1.7%
352	Laryngocele	1.7%
353	Choledochal Cyst	1.7%
354	Hermaphroditism	1.7%
355	Disorders of Sex Development	1.7%
356	Cryptorchidism	1.7%
357	Hypospadias	1.7%
358	Central Nervous System Cysts	1.7%
359	Noonan Syndrome	1.7%
360	Dandy-Walker Syndrome	1.6%
361	Leukomalacia, Periventricular	1.6%
362	POEMS Syndrome	1.6%
363	Amelia	1.6%
364	Arachnodactyly	1.6%
365	Ectopia Cordis	1.6%
366	Ectromelia	1.6%
367	Hemimelia	1.6%
368	Meningomyelocele	1.6%
369	Phocomelia	1.6%
370	Sirenomelia	1.6%
371	Spina Bifida	1.6%
372	Polydactyly	1.6%
373	Brachydactyly	1.6%
374	Plagiocephaly	1.6%
375	Lower Extremity Deformities, Congenital	1.6%
376	Upper Extremity Deformities, Congenital	1.6%
377	Single umbilical artery	1.6%
378	Obesity	1.6%
379	Ascorbic Acid Deficiency	1.6%
380	Vitamin A Deficiency	1.6%
381	Vitamin D Deficiency	1.6%
382	Vitamin E Deficiency	1.6%
383	Marasmus	1.6%
384	Porencephaly	1.6%
385	Acrocephalosyndactylia	1.6%
386	Laryngomalacia	1.5%
387	Jaw Abnormalities	1.4%
388	Pectus carinatum	1.4%
389	Bladder Exstrophy	1.4%
390	Epispadias	1.4%
391	Multicystic Dysplastic Kidney	1.4%
392	Cleft Palate	1.4%
393	Poland Syndrome	1.4%
394	Folic Acid Deficiency	1.3%
395	Pellagra	1.3%
396	Thiamine Deficiency	1.3%
397	Vitamin B 12 Deficiency	1.3%
398	Vitamin B 6 Deficiency	1.3%
399	Pyridoxine Deficiency	1.3%
400	Aortic coarctation	1.3%
401	Cor Triatriatum	1.3%
402	Coronary Vessel Anomalies	1.3%
403	Dental Enamel Hypoplasia	1.3%
404	Patent ductus arteriosus	1.3%
405	Ebstein Anomaly	1.3%
406	Heart Septal Defects	1.3%
407	Hyaline Membrane Disease	1.3%
408	Hypodontia	1.3%
409	Macrostomia	1.3%
410	Meningocele	1.3%
411	Microstomia	1.3%
412	Tetralogy of Fallot	1.3%
413	Transposition of Great Vessels	1.3%
414	Hypoplastic Left Heart Syndrome	1.3%
415	May-Thurner Syndrome	1.3%
416	Encephalocele	1.3%
417	Craniofacial Dysostosis	1.3%
418	Wolff-Parkinson-White Syndrome	1.3%
419	Obesity, Abdominal	1.3%
420	Dermal Sinus	1.2%
421	Spina Bifida Cystica	1.2%
422	Spina Bifida Occulta	1.2%
423	Lissencephaly	1.2%
424	Polymicrogyria	1.2%
425	Pachygyria	1.2%
426	Schizencephaly	1.2%
427	Periventricular Nodular Heterotopia	1.2%
428	Beriberi	1.2%
429	Micrognathism	1.1%
430	Pierre Robin Syndrome	1.1%
431	Long QT Syndrome	1.1%
432	Platybasia	1.1%
433	Tricuspid Atresia	1.1%
434	Arrhythmogenic Right Ventricular Dysplasia	1.1%
435	Gonadal Dysgenesis	1.1%
436	Bronchomalacia	1.1%
437	Adrenogenital Syndrome	1.1%
438	Tracheomalacia	1.1%
439	Ovotesticular Disorders of Sex Development	1.1%
440	Pediatric Obesity	1.1%
441	Retrognathia	1%
442	Vitamin K Deficiency	1%
443	Aortopulmonary Septal Defect	1%
444	Double Outlet Right Ventricle	1%
445	Endocardial Cushion Defects	1%
446	Myocardial bridging	1%
447	Aorticopulmonary Septal Defect	1%
448	Hyperandrogenism	1%
449	Anemia, Pernicious	0.9%
450	Prognathism	0.9%
451	Scurvy	0.8%
452	Mandibulofacial Dysostosis	0.8%
453	Romano-Ward Syndrome	0.8%
454	Truncus Arteriosus, Persistent	0.8%
455	Goldenhar Syndrome	0.8%
456	Talipes	0.7%
457	Arteriovenous fistula	0.6%
458	Congenital clubfoot	0.6%
459	Vertical Talus	0.6%
460	Subacute Combined Degeneration	0.5%

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