Ketoacidosis due to monocarboxylate transporter-1 deficiency
- Synonyms
- Monocarboxylate transporter 1 deficiency
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (23 available)
Clinical features
Help- Abnormality of metabolism/homeostasis
- Ketoacidosis
Ketoacidosis
- MedGen UID: 67434
- Concept ID: C0220982
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Ketotic hypoglycemia
Ketotic hypoglycemia
- MedGen UID: 543512
- Concept ID: C0271713
- Finding: Disease or Syndrome
Abnormality of metabolism/homeostasis
- Ketoacidosis
- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the genitourinary system
- Ketonuria
Ketonuria
- MedGen UID: 56402
- Concept ID: C0162275
- Finding: Finding
Abnormality of the genitourinary system
- Ketonuria
- Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Global developmental delay
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