Propionic acidemia
- Synonyms
- Glycinemia, ketotic; Hyperglycinemia with ketoacidosis and leukopenia; Ketotic hyperglycinemia
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Carolina I Galarreta Aima
- Oleg A Shchelochkov
- Teodoro Jerves Serrano
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (132 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Anemia
Anemia
- MedGen UID: 1526
- Concept ID: C0002871
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Pancytopenia
Pancytopenia
- MedGen UID: 18281
- Concept ID: C0030312
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Thrombocytopenia
Thrombocytopenia
- MedGen UID: 52737
- Concept ID: C0040034
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Anemia
- Abnormality of limbs
- Limb hypertonia
Limb hypertonia
- MedGen UID: 333083
- Concept ID: C1838391
- Finding: Finding
Abnormality of limbs
- Limb hypertonia
- Abnormality of metabolism/homeostasis
- Dehydration
Dehydration
- MedGen UID: 8273
- Concept ID: C0011175
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hyperammonemia
Hyperammonemia
- MedGen UID: 1802066
- Concept ID: C5574662
- Finding: Laboratory or Test Result
Abnormality of metabolism/homeostasis
- Hyperglycinemia
Hyperglycinemia
- MedGen UID: 82817
- Concept ID: C0268559
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Hypoglycemia
Hypoglycemia
- MedGen UID: 6979
- Concept ID: C0020615
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Lactic acidosis
Lactic acidosis
- MedGen UID: 1717
- Concept ID: C0001125
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Metabolic acidosis
Metabolic acidosis
- MedGen UID: 65117
- Concept ID: C0220981
- Finding: Pathologic Function
Abnormality of metabolism/homeostasis
- Propionyl-CoA carboxylase deficiency
Propionyl-CoA carboxylase deficiency
- MedGen UID: 1638582
- Concept ID: C4551877
- Finding: Finding
Abnormality of metabolism/homeostasis
- Dehydration
- Abnormality of the cardiovascular system
- Cardiomyopathy
Cardiomyopathy
- MedGen UID: 209232
- Concept ID: C0878544
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Cerebellar hemorrhage
Cerebellar hemorrhage
- MedGen UID: 488779
- Concept ID: C0149854
- Finding: Pathologic Function
Abnormality of the cardiovascular system
- Cardiomyopathy
- Abnormality of the digestive system
- Constipation
Constipation
- MedGen UID: 1101
- Concept ID: C0009806
- Finding: Sign or Symptom
Abnormality of the digestive system
- Feeding difficulties in infancy
Feeding difficulties in infancy
- MedGen UID: 436211
- Concept ID: C2674608
- Finding: Finding
Abnormality of the digestive system
- Hepatomegaly
Hepatomegaly
- MedGen UID: 42428
- Concept ID: C0019209
- Finding: Finding
Abnormality of the digestive system
- Poor appetite
Poor appetite
- MedGen UID: 68562
- Concept ID: C0232462
- Finding: Sign or Symptom
Abnormality of the digestive system
- Vomiting
Vomiting
- MedGen UID: 12124
- Concept ID: C0042963
- Finding: Sign or Symptom
Abnormality of the digestive system
- Constipation
- Abnormality of the genitourinary system
- Hyperglycinuria
Hyperglycinuria
- MedGen UID: 107456
- Concept ID: C0543541
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Increased level of hippuric acid in urine
Increased level of hippuric acid in urine
- MedGen UID: 1640306
- Concept ID: C4703632
- Finding: Finding
Abnormality of the genitourinary system
- Hyperglycinuria
- Abnormality of the immune system
- Eczematoid dermatitis
Eczematoid dermatitis
- MedGen UID: 3968
- Concept ID: C0013595
- Finding: Disease or Syndrome
Abnormality of the immune system
- Neutropenia
Neutropenia
- MedGen UID: 163121
- Concept ID: C0853697
- Finding: Finding
Abnormality of the immune system
- Pancreatitis
Pancreatitis
- MedGen UID: 14586
- Concept ID: C0030305
- Finding: Disease or Syndrome
Abnormality of the immune system
- Eczematoid dermatitis
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteoporosis
Osteoporosis
- MedGen UID: 14535
- Concept ID: C0029456
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Acute encephalopathy
Acute encephalopathy
- MedGen UID: 224930
- Concept ID: C1306587
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Coma
Coma
- MedGen UID: 1054
- Concept ID: C0009421
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Lethargy
Lethargy
- MedGen UID: 7310
- Concept ID: C0023380
- Finding: Sign or Symptom
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Acute encephalopathy
- Abnormality of the respiratory system
- Growth abnormality
- Failure to thrive
Failure to thrive
- MedGen UID: 746019
- Concept ID: C2315100
- Finding: Disease or Syndrome
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Failure to thrive
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C3 Acylcarnitine, Propionic Acidemia (PA) and Methylmalonic Acidemia (MMA), 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Propionic and Methylmalonic Acidemia: C3 Elevated, 2022
- GMDI/SERN, 2017PROP Nutrition Management Guidelines
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