RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION

Question 1

What is  RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION?

Accepted Answer

rare
autosomal recessive
mutation in the SLC4A4 gene
Isolated pRTA can be divided into three sub-categories (T. Igarashi et al. 2002):
(1) autosomal dominant pRTA
(2) autosomal recessive pRTA with ocular abnormalities (3) sporadic isolated pRTA

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Azidose, renale tubuläre, proximale, autosomal-rezessive Form

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 604278

Question 4

Which enzymes are involved?

Accepted Answer

Electrogenic sodium bicarbonate cotransporter 1

Disease	RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
Synonym	RTA, PROXIMAL, AUTOSOMAL RECESSIVE
OMIM	604278 OMIM = Online Mendelian Inheritance of Men
Orphanet	93607
Protein (UniProt)	Electrogenic sodium bicarbonate cotransporter 1
Gene locus	4q13.3
ICD
Summary	rare autosomal recessive mutation in the SLC4A4 gene Isolated pRTA can be divided into three sub-categories (T. Igarashi et al. 2002): (1) autosomal dominant pRTA (2) autosomal recessive pRTA with ocular abnormalities (3) sporadic isolated pRTA
Laboratory findings	Chloride inc (serum) pH normal/dec (blood) pH inc (urine) Potassium dec (serum)
Symptoms	cataract corneal deposits dehydration failure to thrive Fanconi syndrome fever glaucoma growth retardation, poor growth mental retardation metabolic acidosis onset, childhood onset, infancy short stature