From HPO
4-Hydroxyphenylpyruvic aciduria- MedGen UID:
- 376416
- •Concept ID:
- C1848678
- •
- Finding
Increased relative concentration of 4-hydroxyphenylpyruvic acid in the urine.
4-hydroxyphenylacetic aciduria- MedGen UID:
- 376417
- •Concept ID:
- C1848680
- •
- Finding
Increased concentration of 4-hydroxyphenylacetic acid in the urine.
Hawkinsinuria- MedGen UID:
- 419319
- •Concept ID:
- C2931042
- •
- Disease or Syndrome
Hawkinsinuria (HWKS) is an autosomal dominant inborn error of metabolism. Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life (Danks et al., 1975; Tomoeda et al., 2000).
Elevated urine hydroxyphenyllactic acid level- MedGen UID:
- 1054289
- •Concept ID:
- CN378356
- •
- Finding
The amount of hydroxyphenyllactic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
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.
Intellectual disability, mild- MedGen UID:
- 10044
- •Concept ID:
- C0026106
- •
- Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Restlessness- MedGen UID:
- 854457
- •Concept ID:
- C3887611
- •
- Sign or Symptom
A state of unease is characterized by diffuse motor activity or motion, which is subject to limited control, nonproductive, or disorganized behavior.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
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.
Hypertyrosinemia- MedGen UID:
- 742296
- •Concept ID:
- C1879362
- •
- Disease or Syndrome
An increased concentration of tyrosine in the blood.
Sparse hair- MedGen UID:
- 1790211
- •Concept ID:
- C5551005
- •
- Finding
Reduced density of hairs.
- Abnormality of metabolism/homeostasis
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality