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.
Elevated urinary 3-hydroxybutyric acid- MedGen UID:
- 868023
- •Concept ID:
- C4022414
- •
- Finding
An increased amount of 3-hydroxybutyric acid in the urine.
Lacticaciduria- MedGen UID:
- 871116
- •Concept ID:
- C4025585
- •
- Finding
An increased concentration of lactic acid in the urine.
Abnormal urine sebacic acid concentration- MedGen UID:
- 1692932
- •Concept ID:
- C5139636
- •
- Finding
Abnormal concentration of sebacic acid in the urine.
3-hydroxyisovaleric aciduria- MedGen UID:
- 1746334
- •Concept ID:
- C5421619
- •
- Finding
Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.
Elevated urine suberic acid level- MedGen UID:
- 1738538
- •Concept ID:
- C5421685
- •
- Finding
The concentration of suberic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Elevated urine acetoacetic acid level- MedGen UID:
- 1778143
- •Concept ID:
- C5539568
- •
- Finding
Elevated amount of acetoacetic acid in the urine.
Jaundice- MedGen UID:
- 43987
- •Concept ID:
- C0022346
- •
- Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Episodic vomiting- MedGen UID:
- 333228
- •Concept ID:
- C1838993
- •
- Finding
Paroxysmal, recurrent episodes of vomiting.
Lethargy- MedGen UID:
- 7310
- •Concept ID:
- C0023380
- •
- Sign or Symptom
A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.
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.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Tachypnea- MedGen UID:
- 66669
- •Concept ID:
- C0231835
- •
- Finding
Very rapid breathing.
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.
Respiratory alkalosis- MedGen UID:
- 1411
- •Concept ID:
- C0002064
- •
- Pathologic Function
Alkalosis due to excess loss of carbon dioxide from the body.
Hypernatremia- MedGen UID:
- 6966
- •Concept ID:
- C0020488
- •
- Disease or Syndrome
An abnormally increased sodium concentration in the blood.
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Metabolic acidosis- MedGen UID:
- 65117
- •Concept ID:
- C0220981
- •
- Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Ketoacidosis- MedGen UID:
- 67434
- •Concept ID:
- C0220982
- •
- Disease or Syndrome
Acidosis resulting from accumulation of ketone bodies.
Hyperprolinemia- MedGen UID:
- 75690
- •Concept ID:
- C0268528
- •
- Disease or Syndrome
An increased concentration of proline in the blood.
Hyper-beta-alaninemia- MedGen UID:
- 75702
- •Concept ID:
- C0268630
- •
- Disease or Syndrome
An increased concentration of alanine in the blood.
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).
Low plasma citrulline- MedGen UID:
- 326522
- •Concept ID:
- C1839532
- •
- Finding
A decreased concentration of citrulline in the blood.
Hyperglutaminemia- MedGen UID:
- 326901
- •Concept ID:
- C1839533
- •
- Finding
An increased concentration of glutamine in the blood.
Hypoargininemia- MedGen UID:
- 892673
- •Concept ID:
- C4025095
- •
- Finding
A decreased concentration of arginine in the blood.
Hypoornithinemia- MedGen UID:
- 1695001
- •Concept ID:
- C5139561
- •
- Finding
An abnormal decrease in ornithine in the blood.
Hyperammonemia- MedGen UID:
- 1802066
- •Concept ID:
- C5574662
- •
- Laboratory or Test Result
An increased concentration of ammonia in the blood.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the nervous system
- Abnormality of the respiratory system