Format
Items per page

Send to:

Choose Destination

Search results

Items: 8

1.

Hereditary fructosuria

Fructose intolerance becomes apparent in infancy at the time of weaning, when fructose or sucrose is added to the diet. Clinical features include recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal. Long-term exposure to fructose can result in liver failure, renal tubulopathy, and growth retardation. Older patients who survive infancy develop a natural avoidance of sweets and fruits. Ali et al. (1998) provided a detailed review of the biochemical, genetic, and molecular basis of aldolase B deficiency in hereditary fructose intolerance. [from OMIM]

MedGen UID:
42105
Concept ID:
C0016751
Disease or Syndrome
2.

Pyruvate carboxylase deficiency

Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis. Three clinical types are recognized: type A (infantile form), in which most affected children die in infancy or early childhood; type B (severe neonatal form), in which affected infants have hepatomegaly, pyramidal tract signs, and abnormal movement and die within the first three months of life; and type C (intermittent/benign form), in which affected individuals have normal or mildly delayed neurologic development and episodic metabolic acidosis. [from GeneReviews]

MedGen UID:
18801
Concept ID:
C0034341
Disease or Syndrome
3.

Lowe syndrome

Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, aminoaciduria, low molecular-weight (LMW) proteinuria, sodium and potassium wasting, and polyuria. Fanconi syndrome is usually not clinically apparent in the first few months of life, but symptoms may appear by age six to 12 months. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease after age ten to 20 years. [from GeneReviews]

MedGen UID:
18145
Concept ID:
C0028860
Disease or Syndrome
4.

Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation

MedGen UID:
370883
Concept ID:
C1970309
Disease or Syndrome
5.

Proximal renal tubular acidosis

The genetic defect is in the sodium bicarbonate cotransporter gene SLC4A4 resulting in impaired reabsorption of bicarbonate ions in the proximal renal tubules and bicarbonate-wasting. [from MeSH]

MedGen UID:
82804
Concept ID:
C0268435
Disease or Syndrome
6.

Say syndrome

MedGen UID:
357895
Concept ID:
C1867023
Disease or Syndrome
7.

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7

MedGen UID:
862845
Concept ID:
C4014408
Disease or Syndrome
8.

Proximal renal tubular acidosis

A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. [from HPO]

MedGen UID:
505072
Concept ID:
CN001853
Finding
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...