METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE

Question 1

What is  METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE?

Accepted Answer

rare (~20 cases)
autosomal recessive
isolated homocystinuria, isolated methylmalonic aciduria, or combined homocystinuria (very rare) and methylmalonic aciduria

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Methylmalonazidämie mit Homocystinurie Typ cbl D

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 277410

Question 4

Which enzymes are involved?

Accepted Answer

Methylmalonic aciduria and homocystinuria type D protein, mitochondrial

Disease	METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
Synonym	HOMOCYSTINURIA, cblD TYPE, VARIANT 1, VARIANT 2, INCLUDED
OMIM	277410 OMIM = Online Mendelian Inheritance of Men
Orphanet	79283
Protein (UniProt)	Methylmalonic aciduria and homocystinuria type D protein, mitochondrial
Gene locus	2q23.2
ICD	E72.1
Summary	rare (~20 cases) autosomal recessive isolated homocystinuria, isolated methylmalonic aciduria, or combined homocystinuria (very rare) and methylmalonic aciduria
Laboratory findings	Ammonia normal/inc (blood) Betaine normal/inc (urine) Homocysteine inc (plasma) Homocysteine inc (urine) Ketone bodies (urine) inc (urine) L-Lactic acid inc (plasma) Methionine dec (plasma) Methylcitric acid normal/inc (urine) Methylmalonic acid normal/inc (urine)
Symptoms	hyperammonemia anemia dehydration encephalopathy hypotonia ketosis, ketoacidosis metabolic acidosis MRI, brain, abnormalities [-] optic neuropathy pancytopenia renal failure, acute/chronic seizures vomiting ataxia behavior, hyperactive, restless cerebellar atrophy or hypoplasia cerebral atrophy coma dystonia lethargy, drowsiness, apathy maculopathy megaloblastic anemia mental retardation neutropenia (decreased neutrophils) nystagmus onset, childhood onset, infancy onset, neonatal psychomotor retardation speech development, delayed, abnormal