From HPO
Citrullinemia- MedGen UID:
- 104491
- •Concept ID:
- C0175683
- •
- Disease or Syndrome
An increased concentration of citrulline in the urine.
Saccharopinuria- MedGen UID:
- 75693
- •Concept ID:
- C0268556
- •
- Disease or Syndrome
Saccharopinuria, also known as hyperlysinemia type II, is an autosomal recessive metabolic condition with few, if any, clinical manifestations. Hyperlysinemia type II and hyperlysinemia type I (238700) both result from deficiency of the bifunctional enzyme AASS (605113) on chromosome 7q31. The AASS gene encodes lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase, which catalyze, respectively, the sequential conversion of lysine to saccharopine and saccharopine to alpha-aminoadipic semialdehyde and glutamate (summary by Tondo et al., 2013). In hyperlysinemia type I, both enzymatic functions of AASS are defective and patients have increased serum lysine and possibly increased saccharopine; in hyperlysinemia type II, most of the first enzymatic function is retained, and patients tend to have isolated saccharopine increase (Cox, 1985; Cox et al., 1986).
Hyperlysinuria- MedGen UID:
- 867368
- •Concept ID:
- C4021733
- •
- Finding
An increased concentration of lysine in the urine.
Histidinuria- MedGen UID:
- 1731918
- •Concept ID:
- C5399766
- •
- Finding
An increased concentration of histidine in the urine.
Elevated urinary saccharopine level- MedGen UID:
- 1053672
- •Concept ID:
- CN377094
- •
- Finding
The amount of saccharopine in the urine, when normalized to urine concentration, is above the upper limit of normal.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Spastic diplegia- MedGen UID:
- 44181
- •Concept ID:
- C0023882
- •
- Disease or Syndrome
Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis.
EEG abnormality- MedGen UID:
- 56235
- •Concept ID:
- C0151611
- •
- Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Elevated circulating saccharopine concentration- MedGen UID:
- 1814128
- •Concept ID:
- C5558395
- •
- Finding
An increased concentration of saccharopine in the blood circulation. L-saccharopine is the N(6)-(1,3-dicarboxypropan-1-yl) derivative of L-lysine.
- Abnormality of metabolism/homeostasis
- Abnormality of the genitourinary system
- Abnormality of the nervous system
- Growth abnormality