From HPO
Ketonuria- MedGen UID:
- 56402
- •Concept ID:
- C0162275
- •
- Finding
High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Acute liver failure- MedGen UID:
- 58125
- •Concept ID:
- C0162557
- •
- Disease or Syndrome
Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver.
Coma- MedGen UID:
- 1054
- •Concept ID:
- C0009421
- •
- Disease or Syndrome
The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.
Encephalopathy- MedGen UID:
- 39314
- •Concept ID:
- C0085584
- •
- Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Progressive neurologic deterioration- MedGen UID:
- 381506
- •Concept ID:
- C1854838
- •
- Finding
Lactic acidosis- MedGen UID:
- 1717
- •Concept ID:
- C0001125
- •
- Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Dehydration- MedGen UID:
- 8273
- •Concept ID:
- C0011175
- •
- Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Hyperglycemia- MedGen UID:
- 5689
- •Concept ID:
- C0020456
- •
- Disease or Syndrome
An increased concentration of glucose in the blood.
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Ketoacidosis- MedGen UID:
- 67434
- •Concept ID:
- C0220982
- •
- Disease or Syndrome
Acidosis resulting from accumulation of ketone bodies.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 116013
- •Concept ID:
- C0235996
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Increased circulating lactate concentration- MedGen UID:
- 332209
- •Concept ID:
- C1836440
- •
- Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Metabolic ketoacidosis- MedGen UID:
- 381478
- •Concept ID:
- C1854704
- •
- Pathologic Function
A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake.
Episodic ketoacidosis- MedGen UID:
- 349256
- •Concept ID:
- C1859860
- •
- Finding
Intermittent episodes of ketoacidosis.
Elevated lactate:pyruvate ratio- MedGen UID:
- 1717835
- •Concept ID:
- C5397670
- •
- Finding
An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation.
Hyperammonemia- MedGen UID:
- 1802066
- •Concept ID:
- C5574662
- •
- Laboratory or Test Result
An increased concentration of ammonia in the blood.
Ptosis- MedGen UID:
- 2287
- •Concept ID:
- C0005745
- •
- Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Decreased activity of mitochondrial complex III- MedGen UID:
- 460434
- •Concept ID:
- C3149083
- •
- Finding
A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.
- Abnormal cellular phenotype
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the nervous system
- Growth abnormality