From HPO
Hyperglycinuria- MedGen UID:
- 107456
- •Concept ID:
- C0543541
- •
- Disease or Syndrome
The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; 242600), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008).
A phenotype of combined glucosuria and glycinuria has been described (see 138070).
Medium chain dicarboxylic aciduria- MedGen UID:
- 349718
- •Concept ID:
- C1860081
- •
- Finding
An increase in the level of medium chain dicarboxylic acid in the urine.
Elevated urinary 7-hydroxyoctanoic acid level- MedGen UID:
- 1054187
- •Concept ID:
- CN377437
- •
- Finding
The amount of 7-hydroxyoctanoic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
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.
Hepatic steatosis- MedGen UID:
- 398225
- •Concept ID:
- C2711227
- •
- Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Cerebral edema- MedGen UID:
- 2337
- •Concept ID:
- C0006114
- •
- Pathologic Function
Abnormal accumulation of fluid in the brain.
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.
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.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
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).
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.
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.
Decreased circulating carnitine concentration- MedGen UID:
- 1850526
- •Concept ID:
- C5848230
- •
- Finding
Concentration of carnitine in the blood circulation below the lower limit of normal.
Reduced tissue medium-chain acyl-CoA dehydrogenase activity- MedGen UID:
- 1052495
- •Concept ID:
- CN376952
- •
- Finding
Concentration or activity of medium-chain acyl-CoA dehydrogenase (EC 1.3.8.7;MCAD) in tissues is below the lower limit of normal.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system