METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA DUE TO ZNF143 DEFICIENCY

Question 1

What is  METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA DUE TO ZNF143 DEFICIENCY?

Accepted Answer

very rare

autosomal recessive

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 603433

Question 3

Which enzymes are involved?

Accepted Answer

Zinc finger protein 143

Disease	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA DUE TO ZNF143 DEFICIENCY
OMIM	603433 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Zinc finger protein 143
Gene locus	11p15.4
ICD
Summary	very rare autosomal recessive
Laboratory findings	Methylmalonic acid inc (plasma) Glycine inc (cerebrospinal fluid) Glycine normal/inc (plasma) Homocysteine normal/inc (plasma) Methylmalonic acid inc (urine) Propionylcarnitine (C3) normal/inc (blood)
Symptoms	chorea or athetosis developmental delay seizures abnormal movement dysmorphism failure to thrive hypotonia microcephaly (<2 SD for age) onset, childhood onset, infancy onset, neonatal