From HPO
Dicarboxylic aciduria- MedGen UID:
- 343550
- •Concept ID:
- C1856432
- •
- Finding
An increased concentration of dicarboxylic acid in the urine.
3-hydroxydicarboxylic aciduria- MedGen UID:
- 870283
- •Concept ID:
- C4024725
- •
- Finding
The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Lacticaciduria- MedGen UID:
- 871116
- •Concept ID:
- C4025585
- •
- Finding
An increased concentration of lactic acid in the urine.
Abdominal distention- MedGen UID:
- 34
- •Concept ID:
- C0000731
- •
- Finding
Distention of the abdomen.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
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.
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.
Macrovesicular hepatic steatosis- MedGen UID:
- 373290
- •Concept ID:
- C1837256
- •
- Finding
A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes.
Microvesicular hepatic steatosis- MedGen UID:
- 376784
- •Concept ID:
- C1850415
- •
- Finding
A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes.
Feeding difficulties in infancy- MedGen UID:
- 436211
- •Concept ID:
- C2674608
- •
- Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Irritability- MedGen UID:
- 397841
- •Concept ID:
- C2700617
- •
- Mental Process
A proneness to anger, i.e., a tendency to become easily bothered or annoyed.
Prolonged prothrombin time- MedGen UID:
- 208879
- •Concept ID:
- C0853225
- •
- Finding
Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Decreased circulating IgG level- MedGen UID:
- 1720114
- •Concept ID:
- C5234937
- •
- Finding
An abnormally decreased level of immunoglobulin G (IgG) in blood.
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.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Hypoalbuminemia- MedGen UID:
- 68694
- •Concept ID:
- C0239981
- •
- Finding
Reduction in the concentration of albumin in the blood.
Hyperbilirubinemia- MedGen UID:
- 86321
- •Concept ID:
- C0311468
- •
- Finding
An increased amount of bilirubin 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).
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- 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.
Mitochondrial respiratory chain defects- MedGen UID:
- 416588
- •Concept ID:
- C2751582
- •
- Finding
- Abnormal cellular phenotype
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system